Benign Hematological Disorders

¿“«–‡¡¥Á‡≈Õ◊¥·¥ß·µ°ß“଺‘¥ª°µ‘·µ°à”‡π¥‘ Inherited Hemolytic Anemia 129

s°eπ—q3u0-e3n2c¥in«âg¬‡À(NµGπÿ‡È’SÕ)ß1®5ß÷¡‡°’æ“◊ËÕ√‡π¢”â“¡n“e„x™tâ„gπe°n“e√rµat√io«n® ‚√§∑‡Ë’°¥‘®“°°“√°≈“¬æπ—∏¢åÿÕß PKLR gene ®“°
°“√»÷°…“æ∫°“√°≈“¬æ—π∏åÿ„π¬’ππ’È¡“°°«à“ 200
«π‘‘®©¬—À“°“√°≈“¬æπ—∏ÿå∫àÕ¬¢πÈ÷ ·≈–Õ“®°≈“¬‡ªìπ ™π‘¥ ‚¥¬¡“°°«à“√âÕ¬≈– 70 ∑”„À⇰‘¥°“√°≈“¬
¡“µ√∞“π°“√µ√«®µàÕ‰ª„πÕ𓧵 æ—π∏åÿ·∫∫ missense mutation √Õß≈ß¡“‰¥â·°à
°“√°≈“¬æπ—∏∑ÿåµ’Ë”·Àπßà splice site (√Õâ¬≈– 13)
Pyruvate kinase deficiency (PK deficiency) ·≈–°“√°≈“¬æπ—∏∑åÿµ’Ë”·Àπßà stop codon (√Õâ¬≈–
‡ªπì enzymatic defect ∑æ’Ë∫‰¥∫âÕଡ“°‡ªπì 5)34, 35 µ“¡≈”¥—∫ „πªí®®ÿ∫—π¬—߉¡à¡’°“√»÷°…“∂÷ß
Õπ—¥∫—∑’Ë2 √Õß®“° G6PD deficiency ´ß÷ËÕ“°“√ ‡√Õ◊ËߢÕß genotype-phenotype correlation ¢Õß
·≈–Õ“°“√· ¥ßππÈ—¡’§«“¡À≈“°À≈“¬‰¥µâß—È·µà‰¡¡à’ PK deficiency ·µàºŸâªÉ«¬∑Ë’¡’°“√°≈“¬æ—π∏åÿ·∫∫
Õ“°“√ ®π∂÷ß¡’¿“«–‡≈◊Õ¥®“ß ·≈–µ—«‡À≈◊Õß„π homozygous ¡°—¡§’«“¡√πÿ·√ß¡“°°«“à ‡™πà intrau-
∑“√°·√°‡°¥‘ ®πµÕâß°“√°“√√°—…“¥«â¬°“√∂“ଇ≈Õ◊ ¥ terine growth retardation ·≈–¿“«–‡≈Õ◊ ¥®“߇√Õ◊È√ß—
(exchange transfusion) PK deficiency ‡ªìπ ∑”„ÀâµâÕ߉¥â√—∫‡≈◊Õ¥∫àÕ¬ ´÷Ëß®”‡ªìπµâÕß√—°…“¥â«¬

µ“√“ß∑Ë’8.3 G6PD enzyme deficiency subtype ∑æË’∫‰¥∫âÕଠ(¥¥—·ª≈ß®“°‡Õ° “√Õ“âßÕß‘À¡“¬‡≈¢)

G6PD enzyme ¿¡Ÿ¿‘“§∑æË’∫‰¥â §«“¡√πÿ·√ß ™π¥‘
subtypes

G6PD B æ∫‰¥∫â Õà ¬∑ ’Ë¥ÿ Wild-type enzyme ª°µ‘
G6PD A+ √Õâ¬≈– 20-30 ¢Õß™“«·Õø√°‘“ ª°µ,‘‰¡¡à‡’¡¥Á‡≈Õ◊ ¥·¥ß Class IV
·µ°
G6PD A- √Õâ¬≈– 10-15 ¢Õß™“«Õ‡¡√°‘𗇙ÕÈ◊ ‡¡¥Á‡≈Õ◊ ¥·¥ß·µ°‡≈°ÁπÕ⬠Class III
“¬·Õø√°‘“ ∂ß÷ª“π°≈“ß
G6PD Kaiping ‡Õ‡™¬’ ‡¡¥Á‡≈Õ◊ ¥·¥ß·µ°‡≈°ÁπÕ⬠Class III
∂ß÷ª“π°≈“ß
G6PD Mahidol ‡Õ‡™¬’µ–«π—ÕÕ°‡©¬’ß„µâ ‡¡¥Á‡≈Õ◊ ¥·¥ß·µ°‡≈°ÁπÕ⬠Class III
∂ß÷ª“π°≈“ß
G6PD Mediteranean æ∫‰¥„âπ¿¡Ÿ¿‘“§‡¡¥‡‘µÕ√‡å√‡π¬’π ‡¡¥Á‡≈Õ◊ ¥·¥ß·µ°¡“° Class II
µ–«π—ÕÕ°°≈“ß ·≈–™“«Õ𑇥¬’
G6PD Canton ‡Õ‡™¬’ ‡¡¥Á‡≈Õ◊ ¥·¥ß·µ°¡“° Class II
G6PD Viangchan ‡Õ‡™¬’ ‡¡¥Á‡≈Õ◊ ¥·¥ß·µ°¡“° Class II

G6PD = glucose-6-phosphate dehydrogenase

130 Õ¿™‘“µ‘‚æ∏‘Õ–

°“√µ¥—¡“⡇æÕ◊Ë≈¥°“√„À‡â≈Õ◊ ¥21, 22 count ∑‡’Ëæ¡Ë‘ ßŸ¢πÈ÷ ‡πÕ◊Ëß®“°¡°’“√ √“â߇¡¥Á‡≈Õ◊ ¥·¥ß
°“√µ√«®∑“ßÀÕâߪØ∫‘µ—°‘“√‡æÕ◊Ë«π‘®‘©¬—¿“«– „À¡Êà ¡“°¢πÈ÷
PK deficiency ∑”‰¥‚⥬°“√ ßàµ√«® erythrocyte Peripheral blood smear (PBS)
PK level/activity ´ß÷Ë®–æ∫ª√¡‘“≥ PK level ≈¥ ≈—°…≥–¢Õ߇¡Á¥‡≈◊Õ¥·¥ßÕ“®æ∫ hemo-
≈߇À≈Õ◊ ‡æ¬’ß√Õâ¬≈– 5-20 ¢Õß√–¥∫—ª°µ‘·≈–‡¡ÕË◊ globin contracted cell À√◊Õ hemoglobin
ºŸâªÉ«¬¢“¥‡Õπ‰´¡å pyruvate kinase ∑”„À≡à leakage cell „π G6PD deficiency ·≈–æ∫
 “¡“√∂„™âanaerobic glycolysis pathway ‰¥â∑”„Àâ acanthocyte „π PK deficiency ‰¥â¥ß—· ¥ß„π
glucose-6-phosphate (G6P) ππÈ—‰ª∑“ß hexose √ªŸ∑’Ë8.5
monophosphate pathway (HMP) ¡“°¢πÈ÷ ´ßË÷2,3
DPG ‡ªìπ competitive inhibitor ¢Õß HMP Lactate dehydrogenase (LDH)
shunt ∑”„ÀºâªâŸ«É¬¡§’“à 2,3 DPG ‡æ¡Ë‘ ßŸ¢πÈ÷ ·≈– °“√µ√«®«¥—ª√¡‘“≥ LDH ´ß÷Ë®–¡§’“à ßŸ¢π÷È„π
‡¡ÕË◊ ‰¡¡à’ATP ∑‡Ë’欒ßæÕ ”À√∫— Na/K pump ∑”„Àâ ™«àß∑¡’ˇ’¡¥Á‡≈Õ◊ ¥·¥ß·µ°‡¡Õ◊˺ªâŸ«É¬‰¥√â∫— “√°√–µπâÿ
‡¡Á¥‡≈◊Õ¥·¥ß‡ ’¬°“√§ß√Ÿª√à“ß·≈–§ß ¿“æ ‡¡Ë◊Õ¥Ÿ À√◊Õ¡’°“√‡®Á∫ªÉ«¬¡“ ®÷ß¡’ª√–‚¬™πå “¡“√∂„™â„π
peripheral blood smear (PBS) ®–æ∫ macro- °“√µ√«®‡æË◊Õª√–‡¡‘𧫓¡√ÿπ·√ߢÕß¿“«–‡¡Á¥
cyte, oval form, contracted cell with multiple G‡≈Õ◊6¥P·D¥ße·nµz°ym·≈e– a“c¡t“iv√∂it„y™„âlπev°e“l√3µ8¥‘µ“¡‰¥Õâ°’¥«â¬
projecting spicule (§≈“⬠echinocyte) °“√µ√«®«—¥ª√‘¡“≥‡Õπ‰´¡å G6PD ´Ë÷ß

°“√µ√«®∑“ßÀâÕߪؑ∫—µ‘°“√‡æ◊ËÕ«‘π‘®©—¬§«“¡  “¡“√∂µ√«®‰¥∑âߗȇ™ß‘§≥ÿ ¿“æ ‚¥¬«∏‘’fluorescent
º‘¥ª°µ¢‘Õ߇Õπ‰´¡‡å¡¥Á‡≈◊Õ¥·¥ß36, 37 spot test √“¬ß“πº≈‡ªìπª°µ‘À√◊Õ ¢“¥‡Õπ‰´¡å
Complete blood count, Reticulocyte count ·≈–°“√µ√«®‡™‘ߪ√‘¡“≥ ‚¥¬«‘∏’quantitative
„π¿“«–ª°µ‘Õ“®‰¡àæ∫¿“«–‡≈◊Õ¥®“ßÀ√◊Õ G6PD enzyme assay ´÷Ëß√“¬ß“πº≈‡ªìπ√–¥—∫
‡¡¥Á‡≈Õ◊ ¥·¥ß·µ° ·µ„àπ¢≥–∑ºË’ªŸâ«É¬∂°Ÿ°√–µπâÿ¥«â¬ ‡Õπ‰´¡åG6PD ∑æË’∫‰«â
 ß‘˵“àßÊ ‡™πà°“√µ¥‘‡™Õ◊È °“√‰¥√â∫—¬“∫“ß™π¥‘ °“√ Pyruvate kinase enzyme level
‰¥â√—∫ “√‡§¡’∫“ß™π‘¥®–°√–µÿâπ„À⇡Á¥‡≈◊Õ¥·¥ß „πºªŸâ«É¬ PK deficiency ®–æ∫«“ࡇ’Õπ‰´¡å
·µ°¡“°¢π÷È ·≈–ºªŸâ«É¬¡¿’“«–‡≈Õ◊ ¥®“ß¡“°¢πÈ÷ red pyruvate kinase ª√¡‘“≥πÕâ¬≈ß
cell indices ®–æ∫§à“ª√‘¡“µ√¢Õ߇¡Á¥‡≈◊Õ¥·¥ß 2,3 Diphosphoglycerate level (2, 3 DPG)
‚¥¬‡©≈¬’Ë (mean corpuscular volume, MCV) „πºªŸâ«É¬ PK deficiency ®–æ∫«“à¡’2,3 DPG
¢π“¥ª°µ‘À√◊Õ‚µ¢È÷π‡≈Á°πâÕ¬ ‡π◊ËÕß®“°¡’‡¡Á¥‡≈◊Õ¥ ∑¡’˪’√¡‘“≥ ßŸ¢π÷È (µ“¡∑‰Ë’¥Õâ∏∫‘“¬‰ª·≈«â)
·¥ß∑Ë’ √â“ߢ÷Èπ„À¡à∑”„Àâ¡’§à“‡©≈’ˬ∑’Ë Ÿß¢÷Èπ æ∫§à“ Next generation sequencing39
§«“¡‡¢â¡¢âπ‡©≈Ë’¬¢Õߌ’‚¡‚°≈∫‘π„π‡¡Á¥‡≈◊Õ¥·¥ß  ”À√—∫„πºŸâªÉ«¬ G6PD deficiency „π
(mean corpuscular hemoglobin concentration, ªí®®ÿ∫—πæ∫°“√°≈“¬æ—π∏åÿ¡“°°«à“ 186 µ”·Àπàß
MCHC) ª°µ‘·≈–¡§’“à°“√°√–®“¬µ«—¢Õߪ√¡‘“µ√ °“√µ√«®‡æË◊Õ„Àâ∑√“∫∂÷ßµ”·Àπàß∑Ë’¡’°“√°≈“¬æ—π∏ÿå
‡¡¥Á‡≈Õ◊ ¥·¥ß (red blood cell distribution width, ∑”„Àâ‡√“∑√“∫∂÷ߧ«“¡√ÿπ·√ß·≈–°“√欓°√≥å‚√§
RDW) ∑ Ë’ߟ¡“°°«“à√Õâ¬≈– 16 ·≈–¡’reticulocyte ∑ÕË’“®‡°¥‘¢π÷ȉ¥â «àπ„πºªâŸ«É¬ PK deficiency ‡√“

¿“«–‡¡¥Á‡≈◊Õ¥·¥ß·µ°ßà“¬º¥‘ª°µ‘·µ°à”‡π¥‘ Inherited Hemolytic Anemia 131

°. G6PD deficiency æ∫¡’hemoglobin leakage cell ¢. PK deficiency æ∫¡’acanthocyte

√ªŸ∑’Ë8.5  ‡¡¬’√‡å≈Õ◊ ¥„πºªŸâ«É¬ RBC enzymopathy
GGPD = glucose-6-phosphate dehydrogenase, PK = pyruvate kinase

RBC = red blood cell

 “¡“√∂µ√«®À“°“√°≈“¬æ—π∏åÿ¢Õ߬’π PKLR ´Ë÷ß ®“ß¡“°µ“¡¢Õâ∫ßà™È’‡πÕË◊ ß®“° G6PD deficiency
„™„âπ°“√¬π◊ ¬π—°“√«π‘®‘©¬—„πºªâŸ«É¬ PK deficiency ‡ªπì‚√§∑¡’Ë°’“√∂“à¬∑Õ¥·∫∫ X-linked recessive
¥ß—ππÈ—®ß÷§«√µ√«®∫§ÿ§≈„π§√Õ∫§√«—¥«â¬
°“√√°—…“ºªŸâ «É¬∑¡’˧’«“¡º¥‘ª°µ¢‘Õ߇Õπ‰´¡‡å¡¥Á
‡≈Õ◊¥·¥ß ∫∑ √ªÿ

°“√√—°…“‡ªìπ°“√√—°…“ª√–§—∫ª√–§Õßµ“¡ ¿“«– inherited hemolytic anemia À√Õ◊
Õ“°“√ ·≈–∑ Ë’”§≠— °«“à§Õ◊ °“√·π–π”„À¥â·Ÿ≈ ¢ÿ¿“æ ¿“«–‡¡Á¥‡≈◊Õ¥·¥ß·µ°ßà“¬º‘¥ª°µ‘·µà°”‡π‘¥π—Èπ
‡¡Ë◊Õ¡’‰¢âÀ√◊Õ¡’°“√µ‘¥‡™È◊Õ„Àâ√’∫‰ªæ∫·æ∑¬å æ√âÕ¡ ‡°¥‘‰¥®â“°À≈“¬ “‡Àµÿ´ß÷Ë¡Õ’“°“√·≈–Õ“°“√· ¥ß
· ¥ß∫—µ√ª√–®”µ—«ºŸâªÉ«¬ À≈’°‡≈Ë’¬ß¬“∑’Ë°√–µÿâπ„Àâ ∑§Ë’≈“⬧≈ß÷°π— ¥ß—ππ—È°“√µ√«®‡æÕ◊Ë«π‘®‘©¬—À“ “‡Àµÿ
‡°‘¥¿“«–‡¡Á¥‡≈◊Õ¥·¥ß·µ°‰¥4â1 µ“¡µ“√“ß∑Ë’8.4 ¢Õß‚√§®ß÷¡§’«“¡ ”§≠— ·≈–‡πÕË◊ ß®“°‚√§ «àπ„À≠à
´÷Ëß¿“«–‡¡Á¥‡≈◊Õ¥·¥ß·µ°π—Èπ®–‡°‘¥¢È÷π À≈—߉¥â√—∫ ¡’°“√∂à“¬∑Õ¥∑“ßæ—π∏ÿ°√√¡ ®÷ß¡’§«“¡ ”§—≠À“°
¬“À√◊Õ “√‡§¡’‰ªª√–¡“≥ 24-72 ™Ë—«‚¡ß ·≈– «‘π‘®©—¬‰¥â‡æ√“–¡’º≈µàÕ°“√欓°√≥å‚√§ ·≈–°“√
 “¡“√∂À“¬‰¥â‡ÕßÀ“°À¬ÿ¥ Ë‘ß°√–µâÿπ∑Ë’∑”„À⇰‘¥ ‡ΩÑ“√–«—߇¡◊ËÕ‡°‘¥Õ“°“√‡®Á∫ªÉ«¬ À√◊ÕÀ≈’°‡≈’ˬ߬“∑Ë’
oxidative stress °“√√—°…“ª√–§—∫ª√–§Õ߉¥â·°à Õ“®‡ Ë’¬ß∑”„À⇰‘¥¿“«–‡¡Á¥‡≈◊Õ¥·¥ß·µ°‰¥â °“√
°“√„Àâ “√πȔլà“߇À¡“– ¡ °“√∑” alkalinized √°—…“ «àπ„À≠‡àªπì°“√√°—…“µ“¡Õ“°“√·∫∫ª√–§∫—-
diuresis ‚¥¬„À√â–¥∫— pH ¢Õߪ í “«–Õ¬„Ÿàπ√–¥∫— ª√–§Õß·≈–°“√À¬¥ÿ ßË‘∑°Ë’√–µπâÿ„À‡â¡¥Á‡≈Õ◊ ¥·¥ß·µ°
7.5-8.5 ‡æÕ◊˪ÕÑß°π—°“√‰ªµ°µ–°Õπ∑‰Ë’µ ·≈–∑”„Àâ ·≈«âÕ“°“√¢ÕߺªŸâ«É¬®–§Õà¬Ê ¥¢’πÈ÷‡Õß
‡°¥‘‰µ«“¬≈¡â‡À≈«µ“¡¡“·≈–„À‡â≈Õ◊ ¥„π°√≥∑’‡Ë’≈Õ◊ ¥

132 Õ¿‘™“µ‘‚æ∏Õ‘–

µ“√“ß∑’Ë8.4 ¬“·≈– “√‡§¡∑’„Ë’πºªâŸ«É¬ G6PD deficiency ∑§Ë’«√À≈°’‡≈¬Ë’ßÀ√Õ◊  “¡“√∂„™‰â¥â(¥¥—·ª≈ß
®“°‡Õ° “√Õ“âßÕß‘À¡“¬‡≈¢ 41)

¬“∑§’Ë«√À≈°’‡≈¬’Ëß

Acetanilid Nalidixic acid Primaquine
Dapsone Napthalene (Mothballs) Sulfacetamide
Furazolidone Nitrofurantoin Sulfapyridine
Glibenclamide Thiazolesulfone Thiazolesulfone
Isobutyl nitrate Phenazopyridine Trinitrotoluene (TNT)
Methylene blue Phenylhydrazine Urate oxidase (Rasburicase)

¬“∑ ’Ë“¡“√∂„™‰â¥â

Acetaminophen (Tylenol) Dyphenhydramine Quinine
Acetylsalicylic acid (Aspirin) Isoniazid Streptomycin
Antazoline Levo-dopa Sulfacytine
Benzhexol (Artane) Trimetroprim Sulfamethoxypyridazine
Chloramphenicol Phenylbutazone Sulfisoxazole
Chloroquine Probenacid Trimetroprim
Colchicine Procainamide Tripelennamine
Cotrimoxazole Pyrimethamine Vitamin K

G6PD = glucose-6-phosphate dehydrogenase

‡Õ° “√Õ“âßÕß‘ ∫√√≥“∏‘°“√. Textbook of Pediatrics: °√ÿ߇∑æœ:

1. Haley K. Congenital Hemolytic Anemia. Med π”Õ°—…√°“√æ¡‘æ;å 2557. Àπ“â 461-7.
Clin North Am. 2017;101(2):361-74.
2. Mohandas N, Gallagher PG. Red cell membrane: 6. Harvey JW. Congenital erythrocyte enzyme
past, present, and future. Blood. 2008;112(10): deficiencies. Vet Clin North Am Small Anim
Pract. 1996;26(5):1003-11.
3939-48.
3. Kusumi A, Sako Y. Cell surface organization 7. Lima PR, Baratti MO, Chiattone ML, Costa FF,
by the membrane skeleton. Curr Opin Cell Biol. Saad ST. Band 3Tambau: a de novo mutation in
the AE1 gene associated with hereditary sphero-
1996;8(4):566-74. cytosis. Implications for anion exchange and
4. Da Costa L, Galimand J, Fenneteau O, Mohandas
N. Hereditary spherocytosis, elliptocytosis, and insertion into the red blood cell membrane.
Eur J Haematol. 2005;74(5):396-401.
other red cell membrane disorders. Blood Rev. 8. Park ES, Jung HL, Kim HJ, Park SS, Bae SH,
2013;27(4):167-78.
5. °µ‘µ‘µÕà®√— . Hereditary spherocytosis. „π: °µ‘µ‘ Shin HY, et al. Hereditary hemolytic anemia in
µàÕ®√— ,  π‘µ√“ »‘√‘∏“ß°ÿ≈, ՗ߧ≥“ ‡°àß °ÿ≈, Korea from 2007 to 2011: A study by the

¿“«–‡¡¥Á‡≈◊Õ¥·¥ß·µ°ß“଺‘¥ª°µ‘·µà°”‡π¥‘ Inherited Hemolytic Anemia 133

Korean Hereditary Hemolytic Anemia Working New insights on hereditary erythrocyte
Party of the Korean Society of Hematology. membrane defects. Haematologica. 2016;101
Blood Res. 2013;48(3):211-6. (11):1284-94.
9. Nakanishi H, Wada H, Suemori S, Sugihara T. 18. Rihtarchik L, Murphy CV, Porter K,
[Hereditary red cell membrane disorders in Mostafavifar L. Utilizing pharmacy intervention
Japan: comparison with other countries]. Rinsho in asplenic patients to improve vaccination rates.
Ketsueki. 2015;56(7):760-70. Res Social Adm Pharm. 2018;14(4):367-71.
10. King MJ, Zanella A. Hereditary red cell mem- 19. Ramachandra J, Bond A, Ranaboldo C, Cullis
brane disorders and laboratory diagnostic J. An audit of post-splenectomy prophylaxis--
testing. Int J Lab Hematol. 2013;35(3):237-43. are we following the guidelines? Ann R Coll
11. Jacobasch G, Rapoport SM. Hemolytic anemias Surg Engl. 2003;85(4):252-5.
due to erythrocyte enzyme deficiencies. Mol 20. Nived P, Jorgensen CS, Settergren B. Vaccination
Aspects Med. 1996;17(2):143-70. status and immune response to 13-valent
12. King MJ, Garcon L, Hoyer JD, Iolascon A, pneumococcal conjugate vaccine in asplenic
Picard V, Stewart G, et al. ICSH guidelines for individuals. Vaccine. 2015;33(14):1688-94.
the laboratory diagnosis of nonimmune hereditary 21. Fujii H, Miwa S. Other erythrocyte enzyme
red cell membrane disorders. Int J Lab Hematol. deficiencies associated with non-haematological
2015;37(3):304-25. symptoms: phosphoglycerate kinase and
13. Ma S, Deng X, Liao L, Deng Z, Qiu Y, Wei H, phosphofructokinase deficiency. Baillieres Best
et al. Analysis of the causes of the misdiagnosis Pract Res Clin Haematol. 2000;13(1):141-8.
of hereditary spherocytosis. Oncol Rep. 2018; 22. Boivin P, Kahn A. [Mechanisms of congenital
40(3):1451-8. erythrocyte enzyme deficiencies associated with
14. King MJ, Jepson MA, Guest A, Mushens R. hemolytic anemia]. Ann Biol Clin (Paris).
Detection of hereditary pyropoikilocytosis by 1976;34(1):53-62.
the eosin-5-maleimide (EMA)-binding test is 23. Beutler E. The molecular biology of G6PD
attributable to a marked reduction in EMA- variants and other red cell enzyme defects. Annu
reactive transmembrane proteins. Int J Lab Rev Med. 1992;43:47-59.
Hematol. 2011;33(2):205-11. 24. Minucci A, Moradkhani K, Hwang MJ, Zuppi
15. Agarwal AM, Nussenzveig RH, Reading NS, C, Giardina B, Capoluongo E. Glucose-6-
Patel JL, Sangle N, Salama ME, et al. Clinical phosphate dehydrogenase (G6PD) mutations
utility of next-generation sequencing in the database: review of the çoldé and update of the
diagnosis of hereditary haemolytic anaemias. new mutations. Blood Cells Mol Dis. 2012;48
Br J Haematol. 2016;174(5):806-14. (3):154-65.
16. He Y, Jia S, Dewan RK, Liao N. Novel mutations 25. Beutler E. G6PD deficiency. Blood. 1994;84
in patients with hereditary red blood cell (11):3613-36.
membrane disorders using next-generation 26. Nuchprayoon I, Sanpavat S, Nuchprayoon S.
sequencing. Gene. 2017;627:556-62. Glucose-6-phosphate dehydrogenase (G6PD)
17. Andolfo I, Russo R, Gambale A, Iolascon A. mutations in Thailand: G6PD Viangchan

134 Õ¿™‘“µ‘‚æ∏Õ‘–

(871G>A) is the most common deficiency 33. Valentine WN. The hereditary hemolytic
variant in the Thai population. Hum Mutat. anemias associated with erythrocyte enzyme
2002;19(2):185. deficiencies. Adv Intern Med. 1970;16:303-27.
27. Nuchprayoon I, Louicharoen C, Charoenvej W.
Glucose-6-phosphate dehydrogenase mutations 34. Zanella A, Fermo E, Bianchi P, Valentini G.
in Mon and Burmese of southern Myanmar. Red cell pyruvate kinase deficiency: molecular
J Hum Genet. 2008;53(1):48-54. and clinical aspects. Br J Haematol. 2005;
28. Louicharoen C, Patin E, Paul R, Nuchprayoon 130(1):11-25.
I, Witoonpanich B, Peerapittayamongkol C, et al.
Positively selected G6PD-Mahidol mutation 35. Gordon-Smith EC. Erythrocyte enzyme deficien-
reduces Plasmodium vivax density in Southeast cies. Pyruvate kinase deficiency. J Clin Pathol
Asians. Science. 2009;326(5959):1546-9. Suppl (R Coll Pathol). 1974;8:128-33.
29. Tanphaichitr VS, Hirono A, Pung-amritt P,
Treesucon A, Wanachiwanawin W. Chronic 36. Ucar K. Clinical presentation and management
nonspherocytic hemolytic anemia due to glucose- of hemolytic anemias. Oncology (Williston
6-phosphate dehydrogenase deficiency: report Park). 2002;16(9 Suppl 10):163-70.
of two families with novel mutations causing
G6PD Bangkok and G6PD Bangkok Noi. Ann 37. Barcellini W, Fattizzo B. Clinical Applications
Hematol. 2011;90(7):769-75. of Hemolytic Markers in the Differential
30. Glomglao W, Chansing K, Treesucon A, Diagnosis and Management of Hemolytic
Siraprapapat P, Thongnoppakhun W, Sanpakit Anemia. Dis Markers. 2015;2015:635670.
K, et al. Direct detection for G6PD Bangkok
and G6PD Bangkok Noi mutations in the 38. Anantasomboon P, Chanda M, Jugnam-Ang W,
families with chronic nonspherocytic hemolytic Witoonpanich P, Cheepsunthorn P, Nuchprayoon
anemia (CNSHA). Int J Lab Hematol. 2015;37 I, et al. Evaluating the performance of automated
(2):e21-4. UV enzymatic assay for screening of glucose
31. Tanphaichitr VS. Glucose-6-phosphate 6-phosphate dehydrogenase deficiency. Int J Lab
dehydrogenase deficiency in Thailand; its Hematol. 2018.
significance in the newborn. Southeast Asian J
Trop Med Public Health. 1999;30 Suppl 2:75-8. 39. Domingo GJ, Satyagraha AW, Anvikar A, Baird
32. Banyatsuppasin W, Jindadamrongwech S, K, Bancone G, Bansil P, et al. G6PD testing in
Limrungsikul A, Butthep P. Prevalence of support of treatment and elimination of malaria:
Thalassemia and Glucose-6-Phosphate Dehy- recommendations for evaluation of G6PD tests.
drogenase Deficiency in Newborns and Adults Malar J. 2013;12:391.
at the Ramathibodi Hospital, Bangkok, Thailand.
Hemoglobin. 2017;41(4-6):260-6. 40. Kim Y, Park J, Kim M. Diagnostic approaches
for inherited hemolytic anemia in the genetic
era. Blood Res. 2017;52(2):84-94.

41. Grace RF, Glader B. Red Blood Cell Enzyme
Disorders. Pediatr Clin North Am. 2018;65
(3):579-95.

∫∑∑Ë’
¿“«–º¥‘ª°µ¢‘Õß°≈à¡ÿ‚√§‰¢°√–¥°ŸΩÉÕ

9 ·µ°à”‡π‘¥
Inherited Bone Marrow Failure Syndromes

ªî¬– √ÿ®°‘®¬“ππ∑å

‰¢°√–¥Ÿ°‡ªìπÕ«—¬«–∑Ë’¡’§«“¡ ”§—≠·≈– ΩÉÕ∑’ˇ°‘¥®“°ªí®®—¬¿“¬πÕ° (acquired aplastic
‡ªìπÕ«—¬«–À≈—°∑Ë’ √â“߇¡Á¥‡≈◊Õ¥µà“ßÊ „π√à“ß°“¬1 anemia) æ∫‰¥âª√–¡“≥√âÕ¬≈– 70  à«π°≈ÿà¡‚√§
¿“«–∑‰’Ë¢°√–¥°Ÿ∑”ß“πº¥‘ª°µ‘‚¥¬ √“â ߇¡¥Á‡≈Õ◊ ¥ ‰¢°√–¥°ŸΩÕÉ ∑‡Ë’°¥‘¢πÈ÷µßÈ—·µ°à ”‡π¥‘ (inherited bone
µ“à ßÊ ≈¥≈ßÀ√Õ◊ ‰¡‰à ¥‡â ≈¬ ‡√¬’°«“à ¿“«–‰¢°√–¥°ŸΩÕÉ marrow failure syndromes) æ∫‰¥ªâ √–¡“≥√Õâ ¬≈–
ºŸâªÉ«¬‡¥Á°∑Ë’¡’¿“«–‰¢°√–¥Ÿ°ΩÉÕ¡—°®–¡“æ∫·æ∑¬å 30 °≈ÿà¡‚√§‰¢°√–¥Ÿ°ΩÉÕµ—Èß·µà°”‡π‘¥∑’Ëæ∫‰¥â∫àÕ¬
¥â«¬Õ“°“√∑’ˇ°’ˬ«¢âÕß°—∫§«“¡º‘¥ª°µ‘¢Õ߇¡Á¥ ‰¥â·°à Fanconi anemia, Diamond-Blackfan
‡≈Õ◊ ¥µ“à ßÊ anemia ·≈– Shwachman-Diamond syndrome
µ“¡≈”¥∫—
Õÿ∫—µ‘°“√≥å
¿“«–∑¡’Ë°’“√ √“â ߇¡¥Á‡≈Õ◊ ¥·¥ß ‡¡¥Á‡≈Õ◊ ¥¢“« 欓∏‘ √’√«∑‘¬“
°√–∫«π°“√ √“â ߇¡¥Á‡≈Õ◊ ¥ (hematopoiesis)
‡°≈Á¥‡≈◊Õ¥ Õ¬à“ß„¥Õ¬à“ßÀπË÷ß≈¥≈ß À√◊Õ¡’°“√≈¥
≈ߢÕ߇¡¥Á‡≈Õ◊ ¥∑ßÈ— 3 ™π¥‘ „πºªŸâ «É ¬‡¥°Á  “¡“√∂ ‡°¥‘¢π÷ȵߗȷµ∑à “√°Õ¬„Ÿà π§√√¿¡å “√¥“ Õ«¬—«–∑¡Ë’ ’«à π
æ∫‰¥â„π‡«™ªØ‘∫—µ‘∑—Ë«‰ª  “‡Àµÿ∑’Ë ”§—≠·≈–æ∫‰¥â ‡°’ˬ«¢âÕß°—∫°√–∫«π°“√ √â“߇¡Á¥‡≈◊Õ¥·µ°µà“ß°—π
∫àÕ¬„πºŸâªÉ«¬∑’ˇ¢â“√—∫°“√√—°…“„π‚√ß欓∫“≈ ·≈– ‰ªµ“¡√–¬–°“√µßÈ—§√√¿å ‰¥·â °à ∂ßÿ‰¢·à ¥ß (yolk sac)
µ√«®æ∫«“à ¡°’“√≈¥≈ߢÕ߇¡¥Á‡≈Õ◊ ¥∑ß—È3 ™π¥‘ ‰¥·â °à µ—∫ ¡â“¡ ·≈– ∑⓬∑Ë’ ÿ¥§◊Õ ‰¢°√–¥Ÿ° (bone
¿“«–µ¥‘‡™ÕÈ◊ æ∫‰¥ªâ √–¡“≥√Õâ ¬≈– 64  “‡Àµ∑ÿ“ß marrow) ∑—ÈßπÈ’∑“√°À≈—ߧ≈Õ¥ Õ«—¬«–∑’Ë∑”Àπâ“∑Ë’
‚≈Àµ‘«∑‘¬“ æ∫‰¥ªâ √–¡“≥√Õâ ¬≈– 28 ·≈– “‡ÀµÕÿπË◊ Ê „π°“√ √“â ߇¡¥Á‡≈Õ◊ ¥∑¡Ë’§’«“¡ ”§≠— §Õ◊ ‰¢°√–¥°Ÿ
æ∫‰¥ªâ √–¡“≥√Õâ ¬≈– 8 ‡™πà ‚√§¿¡Ÿ§‘¡âÿ°π—µ“â πµπ‡Õß ¥«â ¬‡ÀµπÿÈ’‰¢°√–¥°Ÿ®ß÷‡ªπì Õ«¬—«–À≈°—∑¡’ËÀ’π“â ∑„Ë’π
(autoimmune disease) À√Õ◊  “‡Àµ®ÿ“°¬“ (drug- °“√ √“â ߇¡¥Á‡≈Õ◊ ¥„π¡π…ÿ¬3å
induced)2 ”À√∫— “‡Àµ∑ÿ“ß‚≈Àµ‘«∑‘¬“∑∑Ë’”„À‡â °¥‘
¿“«–‰¢°√–¥Ÿ°ΩÉÕ  àߺ≈„À⇰‘¥°“√≈¥≈ߢÕ߇¡Á¥ ‰¢°√–¥°Ÿ ª√–°Õ∫‰ª¥«â ¬  «à π∑‡’˪πì √“à ß·À
‡≈Õ◊ ¥∑ßÈ— 3 ™π¥‘ „πºªŸâ «É ¬‡¥°Á ‰¥·â °à ‚√§‰¢°√–¥°Ÿ ¢ÕßÀ≈Õ¥‡≈Õ◊ ¥ (sinusoidal network) ·≈– «à π
∑‡Ë’ªπì ‡´≈≈å ‰¥·â °à ‡´≈≈µå πâ °”‡π¥‘‡¡¥Á‡≈Õ◊ ¥ (hemato

136 ªî¬– √ÿ®°‘®¬“ππ∑å

poietic stem cell) ‡´≈≈凡Á¥‡≈◊Õ¥„π·µà≈–√–¬– severe congenital neutropenia ·≈– cyclic
°“√æ≤— π“ (differentiate) ‡´≈≈‰å ¢¡π— (adipocyte) neutropenia (§«“¡º¥‘ª°µ¢‘Õ߇¡¥Á‡≈Õ◊ ¥¢“«) ·≈–
·≈–‡´≈≈åæË’‡≈’È¬ß (stromal cell) ºŸâªÉ«¬∑’Ë¡’¿“«– thrombocytopenia with absent radii (§«“¡
‰¢°√–¥Ÿ°ΩÉÕ®–æ∫«à“¡’®”π«π‡´≈≈å„π‰¢°√–¥Ÿ° º¥‘ª°µ‘¢Õ߇°≈Á¥‡≈Õ◊ ¥)
∑Ë’≈¥≈ß ∑”„À⇰‘¥≈—°…≥–∑“ߧ≈‘π‘°∑’Ë —¡æ—π∏å°—∫
§«“¡º‘¥ª°µ¢‘Õ߇¡Á¥‡≈◊Õ¥·¥ß ‡¡¥Á‡≈◊Õ¥¢“« ·≈– Fanconi anemia
‡°≈¥Á‡≈Õ◊ ¥ ‚√§ Fanconi anemia ¡§’«“¡™°ÿÕ¬∑àŸ’Ë1-5
§π µÕà ∑“√°·√°‡°¥‘ 1 ≈“â π§π °“√∂“à ¬∑Õ¥∑“ßæπ—∏ÿ
°“√«π‘ ‘®©¬—·¬°‚√§ °√√¡‡ªπì ·∫∫ autosomal recessive ¬°‡«πâ ºªâŸ«É ¬

ºâŸªÉ«¬∑Ë’¡’≈—°…≥–∑“ߧ≈‘π‘°∑Ë’ —¡æ—π∏å°—∫ Fanconi anemia subgroup B ´Ë÷ß®–¡’°“√
§«“¡º‘¥ª°µ‘¢Õ߇¡Á¥‡≈◊Õ¥ ·≈–‡¢â“‰¥â°—∫¿“«– ∂“à ¬∑Õ¥·∫∫ X-linked recessive „πª®í ®∫ÿπ— ‚√§
‰¢°√–¥Ÿ°ΩÉÕ ®–µâÕß·¬°‚√§‰¢°√–¥Ÿ°ΩÉÕ∑’ˇ°‘¥ Fanconi anemia  “¡“√∂·∫ßà ÕÕ°‰¥‡â ªπì 15 ª√–‡¿∑
®“°ªí®®—¬¿“¬πÕ° ÕÕ°®“°°≈ÿà¡‚√§‰¢°√–¥Ÿ°ΩÉÕ (subgroup) µ“¡™π¥‘¢Õ߬π’∑¡’˧’«“¡‡°¬Ë’«¢Õâ ß ‚¥¬
∑‡Ë’°¥‘¢πÈ÷µß—È·µ°à ”‡π¥‘ ∑ßÈ—π™’È«à ßÕ“¬¢ÿÕߺªŸâ «É ¬®“°∑ßÈ— ¬π’¥ß—°≈“à «¡§’«“¡ ¡—æπ—∏°å ∫—°√–∫«π°“√´Õà ¡·´¡
2  “‡Àµÿ¡§’«“¡·µ°µà“ß°π— ‚¥¬‚√§‰¢°√–¥Ÿ°ΩÉÕ „π√–¥—∫ DNA ª√–¡“≥√âÕ¬≈– 90 ¢Õߺ⟪ɫ¬
∑’ˇ°‘¥®“°ªí®®—¬¿“¬πÕ° ¡—°®–æ∫„πºŸâªÉ«¬‡¥Á°‚µ ®¥—Õ¬„Ÿà π subgroup A, C ·≈– G °“√°≈“¬æπ—∏ÿå
À√◊Õ«—¬√àÿπ „π¢≥–∑Ë’ºŸâªÉ«¬°≈àÿ¡ ‚√§‰¢°√–¥Ÿ°ΩÉÕ∑Ë’ ¢Õ߬π’¥ß—°≈“à « “¡“√∂∑”„À‡â °¥‘§«“¡‰¡‡à  ∂¬’√¢Õß
‡°‘¥¢È÷πµ—Èß·µà°”‡π‘¥¡—°®–¡’Õ“°“√º‘¥ª°µ‘µ—Èß·µà ‚§√‚¡‚´¡  ßà º≈„À‡â °¥‘°“√µ“¬¢Õ߇´≈≈µå πâ °”‡π¥‘
·√°§≈Õ¥ „π∑“√°À√◊Õ‡¥Á°‡≈Á° ºŸâªÉ«¬°≈àÿ¡‚√§ ∑”„À⺟âªÉ«¬¡’¿“«–‰¢°√–¥Ÿ°ΩÉÕ ·≈–¡’§«“¡‡ Ë’¬ß∑Ë’
‰¢°√–¥Ÿ°ΩÉÕ∑Ë’‡°‘¥¢È÷πµÈ—ß·µà°”‡π‘¥¡—°®–¡’§«“¡º‘¥ ‡æ‘Ë¡¢È÷πµàÕ°“√‡°‘¥‚√§¡–‡√Áß5 ≈—°…≥–∑“ߧ≈‘π‘°„π
ª°µ∑‘“ß°“¬¿“æ ºŸâªÉ«¬ Fanconi anemia ª√–°Õ∫‰ª¥â«¬ °“√
°≈ÿà¡‚√§‰¢°√–¥Ÿ°ΩÉÕ∑’ˇ°‘¥¢÷Èπµ—Èß·µà°”‡π‘¥4 ‡®√≠‘ ‡µ∫‘‚µ∑ºË’¥‘ª°µ‘(growth retardation) §«“¡
 “¡“√∂·∫àß·¬°ÕÕ°‰¥âµ“¡™π‘¥¢Õ߇¡Á¥‡≈◊Õ¥∑’Ë¡’ º‘¥ª°µ‘∑“ß°“¬¿“淵ఔ‡π‘¥ ‰¥â·°à »’√…–‡≈Á°
§«“¡º‘¥ª°µ‘¥ß—πÈ’ (microcephaly) ºË◊π cafe-au-lait spot §«“¡
1) °≈ÿà¡‚√§‰¢°√–¥Ÿ°ΩÉÕ∑’ˇ°‘¥¢È÷πµÈ—ß·µà º¥‘ª°µ¢‘Õ߉µ ·≈– radial ray defect ºªŸâ «É ¬®–¡’
°”‡π‘¥ ∑Ë’¡’°“√≈¥≈ߢÕ߇¡Á¥‡≈◊Õ¥∑È—ß 3 ™π‘¥ ‡¡Á¥‡≈◊Õ¥ª°µ‘‡¡◊ËÕ·√°‡°‘¥ ‚¥¬§«“¡º‘¥ª°µ‘¢Õß
(pancytopenia) ‰¥·â °à Fanconi anemia, dyskera- ‡¡Á¥‡≈◊Õ¥∑’Ë —¡æ—π∏å°—∫¿“«–‰¢°√–¥Ÿ°ΩÉÕ®–‡√Ë‘¡‡°‘¥
tosis congenita, Shwachman-Diamond „π™«à ßÕ“¬ÿ5-10 ªï πÕ°®“°πºÈ’ªŸâ «É ¬¡§’«“¡‡ ¬’Ëß∑Ë’
syndrome ·≈– congenital amegakaryocytic ‡æ¡Ë‘¢πÈ÷µÕà °“√‡°¥‘‚√§ myelodysplastic syndrome
thrombocytopenia ‚√§¡–‡√ßÁ‡¡¥Á‡≈Õ◊ ¥¢“«‡©¬’∫æ≈π—™π¥‘ acutemyeloid
2) °≈àÿ¡‚√§‰¢°√–¥Ÿ°ΩÉÕ∑Ë’‡°‘¥¢È÷πµ—Èß·µà leukemia ·≈– ‚√§¡–‡√ßÁ¢ÕßÕ«¬—«–·∫∫∑‡Ë’ªπì °Õâ π
°”‡π‘¥ ∑’Ë¡’°“√≈¥≈ߢÕ߇¡¥Á‡≈◊Õ¥™π‘¥„¥™π¥‘ÀπËß÷ (solid tumor) °“√µ√«®∑“ßÀâÕߪؑ∫—µ‘°“√‡æ◊ËÕ
(single lineage failure) ‰¥â·°à Diamond- ¬◊π¬—π°“√«‘π‘®©—¬‚√§ Fanconi anemia ª√–°Õ∫
Blackfan anemia (§«“¡º¥‘ª°µ¢‘Õ߇¡¥Á‡≈Õ◊ ¥·¥ß) ¥«â ¬°“√ ßà µ√«® induced chromosomal breakage

¿“«–º‘¥ª°µ¢‘Õß°≈¡àÿ‚√§‰¢°√–¥°ŸΩÕÉ·µà°”‡π‘¥ Inherited Bone Marrow Failure Syndromes 137

test ‚¥¬„™â “√ diepoxybutane (DEB) ·≈– dominant, autosomal recessive À√Õ◊ X-linked
mitomycin C (MMC) ‡æÕË◊ ‡Àπ¬Ë’«π”„À‡â °¥‘°“√ recessive ‚¥¬Õ“¬ÿ‡©≈’ˬ¢ÕߺŸâªÉ«¬‡¡Ë◊Õ‰¥â√—∫°“√
·µ° ≈“¬¢Õß‚§√‚¡‚´¡„π‡¡Á¥‡≈◊Õ¥¢“«™π‘¥ «π‘®‘©¬—Õ¬∑Ÿà ’Ë2 ‡¥Õ◊ π ºªŸâ «É ¬ Diamond-Blackfan
lymphocyte ´ßË÷°“√µ√«®¥ß—°≈“à «∂Õ◊ ‡ªπì °“√µ√«® anemia √âÕ¬≈– 20-25 ¡’°“√°≈“¬æ—π∏åÿ¢Õ߬’π
¡“µ√∞“π  ”À√∫—°“√µ√«®∑“ßÀÕâ ߪØ∫‘µ—°‘“√ÕπË◊ Ê RPS1912‚¥¬ ¡—æπ—∏°å ∫—°“√∂“à ¬∑Õ¥∑“ßæπ—∏°ÿ√√¡
‡æÕË◊ ™«à ¬„π°“√¬π◊ ¬π—°“√«π‘®‘©¬—‚√§ Fanconi ane- ·∫∫ autosomal dominant ªí®®ÿ∫—π¡’√“¬ß“π
mia ‰¥·â °à °“√µ√«®À“ Fancd2-l ‚¥¬ western °“√°≈“¬æπ—∏¡åÿ“°°«“à 60 µ”·Àπßà „π¬π’ RPS19
blot analysis °“√µ√«® complementation group ª√–°Õ∫¥«â ¬ missense, nonsense, frameshift,
analysis ·≈– mutation analysis6 splice site defect, insertion ·≈– deletion ∑ßÈ—πÈ’
°“√√—°…“ºŸâªÉ«¬‚√§ Fanconi anemia ¬π’ RPS19 ¡§’«“¡ ”§≠— °∫—°“√‡°¥‘ rRNA tran-
ª√–°Õ∫¥â«¬°“√„Àâ‡≈◊Õ¥·≈–‡°≈Á¥‡≈◊Õ¥„π°√≥’∑’Ë scription ·≈– ribosome biogenesis √«¡∂÷ß
ºŸâªÉ«¬¡’¿“«–´’¥À√◊Õ¡’‡≈◊Õ¥ÕÕ°º‘¥ª°µ‘®“°¿“«– °“√æ≤— π“¢Õ߇¡¥Á‡≈Õ◊ ¥·¥ß„π√–¬–‡√¡Ë‘µπâ 13 ºªâŸ«É ¬
‡°≈Á¥‡≈◊Õ¥µ”Ë „π°√≥’∑Ë’ºâŸªÉ«¬¡’‡¡Á¥‡≈◊Õ¥¢“«µË”  à«π„À≠à®–¡’¿“«–´’¥ √à«¡°—∫µ√«®æ∫‡¡Á¥‡≈◊Õ¥
¡“°  “¡“√∂„À⬓„π°≈àÿ¡ androgen ‰¥â·°à ¢π“¥„À≠à·≈–√–¥—∫ fetal hemoglobin ∑’Ë Ÿß¢÷Èπ
oxymetholone ¢π“¥ 2-5 ¡°./°°./«π—7,8 ·≈– ª√–¡“≥ 1 „π 3 ¢ÕߺªŸâ «É ¬æ∫«“à ¡§’«“¡º¥‘ª°µ‘
¬“„π°≈àÿ¡ cytoki nfaecstor‰(¥Gâ·-°Cà SgFr)a9n,1u0lÕo¬c“à yßt‰e√ ∑“ß°“¬¿“æ·µ°à ”‡π¥‘ ‰¥·â °à ª“°·À«ßà ‡æ¥“π‚À«à
colony-stimulating §“߇≈°Á π«‘ÈÀ«—·¡¡à Õ◊ º¥‘√ªŸ (triphalangeal thumbs)
°µÁ“¡æ∫«“à ºªŸâ «É ¬∫“ß°≈¡àÿ‰¡µà Õ∫ πÕßµÕà °“√√°—…“ µ«—‡µ¬’È ·≈–§«“¡º¥‘ª°µ¢‘Õß√–∫∫∑“߇¥π‘ª í  “«–
·≈–µâÕ߉¥â√—∫°“√ª≈Ÿ°∂à“¬‡´≈≈åµâ𰔇𑥇¡Á¥‡≈◊Õ¥ πÕ°®“°π√È’Õâ ¬≈– 1.9 ¢ÕߺªŸâ «É ¬æ∫«“à ¡§’«“¡‡ ¬Ë’ß
∑—Èßπ’ÈÕ—µ√“°“√√Õ¥™’«‘µ„πºŸâªÉ«¬∑Ë’‰¥â√—∫°“√ª≈Ÿ°∂à“¬ µÕà °“√‡°¥‘‚√§ myelodysplastic syndrome ‚√§
‡´≈≈åµâ𰔇𑥇¡Á¥‡≈◊Õ¥®“°æË’πâÕß (matched- ¡–‡√ßÁ‡¡¥Á‡≈Õ◊ ¥¢“«‡©¬’∫æ≈π—™π¥‘ acute myeloid
related donor) ·≈–∑’ˉ¡à„™àæË’πâÕß (alternative leukemia ¡–‡√ÁßµàÕ¡πÈ”‡À≈◊Õß™π‘¥ Hodgkinûs
donor) ‰¥ºâ ≈¡“°°«“à √Õâ ¬≈– 70 ·≈–πÕâ ¬°«“à √Õâ ¬ lymphoma ·≈– ‚√§¡–‡√ßÁ°√–¥°Ÿ (osteosarcoma)
≈– 40 µ“¡≈”¥—∫11 ‚¥¬¡’Õ—µ√“°“√√Õ¥™’«‘µ‡©≈Ë’¬ ´ß÷Ë∂Õ◊ «“à πÕâ ¬¡“°‡¡ÕË◊ ‡∑¬’∫°∫—§«“¡‡ ¬’ËßµÕà °“√‡°¥‘
¢ÕߺªŸâ «É ¬Õ¬∑àŸÕË’“¬ÿ20-30 ªï ‚√§¡–‡√ßÁ„πºªâŸ«É ¬ Fanconi anemia
°“√√°—…“ºªâŸ«É ¬ Diamond-Blackfan anemia
Diamond-Blackfan anemia ‰¥â·°à °“√„Àâ‡≈◊Õ¥„π°√≥’∑’˺ŸâªÉ«¬¡’¿“«–‡≈◊Õ¥®“ß

‚√§ Diamond-Blackfan anemia ‡ªπì ‚√§ ∑Ë’ ∑ß—Èπæ’È∫«“à √Õâ ¬≈– 15-20 ¢ÕߺªâŸ«É ¬ “¡“√∂¡¿’“«–
‡°‘¥®“°§«“¡º‘¥ª°µ‘¢Õß°“√ √â“߇¡Á¥‡≈◊Õ¥·¥ß ‡≈Õ◊ ¥®“ß∑¥Ë’¢’π÷ȇÕ߉¥‚â ¥¬‰¡µà Õâ ß°“√°“√√°—…“Õ¬“à ߉√
·µ°à ”‡π¥‘ (congenital pure red cell aplasia) Õ∫ÿµ—‘ °Áµ“¡ºâŸªÉ«¬ à«π„À≠ଗߵâÕ߉¥â√—∫°“√√—°…“ ‰¥â·°à
°“√≥°å “√‡°¥‘‚√§Õ¬∑Ÿà Ë’5-10 §π µÕà ∑“√°·√°‡°¥‘ °“√„À¬â “ prednisolone ¢π“¥‡√¡‘˵πâ ∑’Ë2 ¡°./°°.«π—
Àπ÷Ëß≈â“π§π ºâŸªÉ«¬√âÕ¬≈– 80 ¡’°“√∂à“¬∑Õ¥∑“ß ·≈–ª√∫—≈¥Õ¬“à ß™“â ʇæÕË◊ „À‰â ¥¢â π“¥µË”∑ Ë’¥ÿ∑ Ë’“¡“√∂
æπ—∏ÿ°√√¡·∫∫ sporadic ·≈–ºŸªâ É«¬∑‡Ë’À≈Õ◊ √âÕ¬≈– §ß√–¥—∫Œ’‚¡‚°≈∫‘πÕ¬àŸ∑Ë’10 °√—¡/¥≈.14 ºŸâªÉ«¬
20 ¡’°“√∂à“¬∑Õ¥∑“ßæ—π∏ÿ°√√¡·∫∫ autosomal √Õâ ¬≈– 50-75 µÕ∫ πÕߥ’µàÕ¬“ prednisolone

138 ªî¬– √®ÿ°®‘¬“ππ∑å

 ”À√—∫°“√ª≈Ÿ°∂à“¬‡´≈≈åµâ𰔇𑥇¡Á¥‡≈◊Õ¥∂◊Õ À√Õ◊ CT ‰¥â ºªŸâ «É ¬∫“ß√“¬Õ“®µ√«®æ∫§«“¡º¥‘ª°µ‘
‡ªìπ°“√√—°…“‡æ’¬ß™π‘¥‡¥’¬« „πªí®®ÿ∫—π∑ ’Ë“¡“√∂ ¢Õß°√–¥°Ÿ√–¬“ߧå (skeletal abnormality) ‰¥·â °à
∑”„ÀâºâŸªÉ«¬À“¬¢“¥®“°‚√§‰¥â ∑È—ßπÈ’Õ—µ√“°“√√Õ¥ metaphyseal dysostosis ‚¥¬®–æ∫¡“°∑Ë’∫√‘‡«≥
™’«‘µ„πºâŸªÉ«¬∑’ˉ¥â√—∫°“√ª≈Ÿ°∂à“¬‡´≈≈åµâ𰔇𑥠femoral head  ”À√—∫§«“¡º‘¥ª°µ‘∑“ß‚≈À‘µ
‡¡Á¥‡≈◊Õ¥®“°æË’πâÕß (matched-related donor) «‘∑¬“∑Ë’æ∫‰¥â∫àÕ¬§◊Õ °“√µ√«®æ∫°“√≈¥≈ߢÕß
·≈–∑‰’Ë¡„à ™æà πË’Õâ ß (alternative donor) Õ¬∑àŸ√Ë’Õâ ¬≈– ‡¡¥Á‡≈Õ◊ ¥‡æ¬’ß™π¥‘‡¥¬’« (single cytopenia) À√Õ◊
85 ·≈–√Õâ ¬≈– 14 µ“¡≈”¥∫— À≈“¬™π¥‘ (multilineage cytopenia) ‚¥¬‡©æ“–
¿“«–‡¡Á¥‡≈◊Õ¥¢“«µ”Ë (neutropenia) ‡ªìπ¿“«–∑Ë’
Shwachman-Diamond syndrome æ∫‰¥∫â Õà ¬∑ Ë’¥ÿ Õ¬“à ߉√°µÁ“¡Õ“®æ∫¿“«–‡°≈¥Á‡≈Õ◊ ¥

‚√§ Shwachman-Diamond syndrome ‡ªπì µ”ËÀ√Õ◊ ‡≈Õ◊ ¥®“ß√«à ¡¥«â ¬‰¥â
‚√§„π°≈¡àÿ‚√§‰¢°√–¥°ŸΩÕÉ ∑‡’Ë°¥‘¢πÈ÷µß—È·µ°à ”‡π¥‘ ∑Ë’ °“√√—°…“ºâŸªÉ«¬ Shwachman-Diamond
æ∫‰¥∫â Õà ¬‡ªπì Õπ—¥∫—∑Ë’3 √Õß®“° Fanconi anemia syndrome ª√–°Õ∫‰ª¥â«¬°“√„Àâ pancreatic
·≈– Diamond-Blackfan anemia15 °“√∂“à ¬∑Õ¥∑“ß enzyme ·≈– fat-soluble vitamin ∑¥·∑π„π
æπ—∏°ÿ√√¡„π Shwachman-Diamond syndrome ºªŸâ «É ¬∑¡Ë’’exocrine pancreatic dysfunction °“√
‡ªπì ·∫∫ autosomal recessive ·≈–√Õâ ¬≈– 90 ¢Õß „Àâ G-CSF „πºªŸâ «É ¬∑¡Ë’¿’“«–‡¡¥Á‡≈Õ◊ ¥¢“«µ”Ë ·≈–
ºŸâªÉ«¬µ√«®æ∫°“√°≈“¬æ—π∏åÿ¢Õ߬’π SBDS ‚¥¬ °“√„À⬓ªØ‘™’«π–„πºâŸªÉ«¬∑Ë’‡¡Á¥‡≈◊Õ¥¢“«µË”∑’Ë¡’‰¢â
‡´≈≈µå πâ °”‡π¥‘‡¡¥Á‡≈Õ◊ ¥ (CD34+ cell) „πºªŸâ «É ¬ (febrile neutropenia)  ”À√—∫°“√ª≈Ÿ°∂à“¬‡´≈≈å
Shwachman-Diamond syndrome  “¡“√∂‡°¥‘ µâ𰔇𑥇¡Á¥‡≈◊Õ¥ª°µ‘®–∑”À≈—ß®“°∑’˺⟪ɫ¬‡°‘¥
°“√µ“¬ (apoptosis) º“à π∑“ß°≈‰° Fas pathway16 ¿“«– myelodysplastic syndrome À√◊Õ‚√§
ªí®®ÿ∫—πæ∫«à“¬’π SBDS ¡’§«“¡ —¡æ—π∏å°—∫°≈‰° ‰¢°√–¥Ÿ°ΩÉÕ ‚¥¬Õ—µ√“°“√√Õ¥™’«‘µ¢Õߺ⟪ɫ¬À≈—ß
ribosomal biogenesis ·≈– RNA processing17 ®“°∑Ë’‰¥â√—∫°“√ª≈Ÿ°∂à“¬‡´≈≈åµâ𰔇𑥇¡Á¥‡≈◊Õ¥
§«“¡‡ ¬Ë’ß∑‡Ë’æ¡‘Ë¢πÈ÷„π°“√‡°¥‘‚√§¡–‡√ßÁ‡¡¥Á‡≈Õ◊ ¥¢“«18 Õ¬∑Ÿà √Ë’Õâ ¬≈– 50
‚¥¬ª°µº‘ªŸâ «É ¬ Shwachman-Diamond syndrome
®–‰¥√â ∫—°“√«π‘®‘©¬—„πÕ“¬ÿ1-3 ª·ï √° ≈°—…≥–¢Õß Congenital amegakaryocytic thrombocy-
‚√§ª√–°Õ∫‰ª¥«â ¬°“√∑”ß“π¢Õßµ∫—ÕÕà π∑ºË’¥‘ª°µ‘ topenia
(exocrine pancreatic dysfunction) ∑ßÈ—πº’ȪŸâ «É ¬ ‚√§ congenital amegakaryocytic throm-
 «à π„À≠®à –¡Õ’“°“√∂“à ¬‡À≈« ¡‰’¢¡π—ªπ (steator- bocytopenia ‡ªπì ‚√§∑¡’Ë°’“√∂“à ¬∑Õ¥∑“ßæπ—∏°ÿ√√¡
rhea) ¡¿’“«–∑æÿ‚¿™π“°“√ (failure to thrive) °“√ ·∫∫ autosomal recessive ‚¥¬¡’§«“¡ —¡æ—π∏å
µ√«®∑“ßÀÕâ ߪØ∫‘µ—°‘“√‰¥·â °à °“√µ√«® quantita- °∫—°“√°≈“¬æπ—∏¢åÿÕ߬π’ c-mpl (TPO receptor)19
tive pancreatic stimulation test °“√µ√«® ºŸâªÉ«¬ à«π„À≠à®–æ∫«à“¡’¿“«–‡°≈Á¥‡≈◊Õ¥µ”ˇ撬ß
æ∫√–¥∫—∑≈Ë’¥≈ߢÕß serum cationic trypsinogen Õ¬à“߇¥’¬«µÈ—ß·µà√–¬–·√°§≈Õ¥·≈–∑“√° ·≈–
·≈–§«“¡º¥‘ª°µ¢‘Õß 72-™¡. fecal fat analysis æ≤— 𓉪‡ªπì ‚√§‰¢°√–¥°ŸΩÕÉ ¿“¬„π√–¬–‡«≈“ 3-5 ªï
πÕ°®“°πÈ’Õ“®æ∫ pancreatic lipomatosis ®“° ®“°°“√µ√«®√à“ß°“¬®–‰¡àæ∫§«“¡º‘¥ª°µ‘∑“ß
°“√µ√«®¿“æ∂“à ¬∑“ß√ß— ’‰¥·â °à ultrasound, MRI °“¬¿“æ ´ß÷Ë·µ°µ“à ß®“°‚√§„π°≈¡àÿ‚√§‰¢°√–¥°ŸΩÕÉ

¿“«–º¥‘ª°µ‘¢Õß°≈ÿ¡à‚√§‰¢°√–¥Ÿ°ΩÕÉ·µ°à”‡π¥‘ Inherited Bone Marrow Failure Syndromes 139

∑’ˇ°‘¥¢÷Èπµ—Èß·µà°”‡π‘¥Õ◊ËπÊ ‡¡◊ËÕµ√«®‰¢°√–¥Ÿ°®– deficiency)  ”À√∫—¬π’ TERC ππ—È¡’§«“¡ ¡—æπ—∏å
æ∫«à“¡’°“√≈¥≈ߢÕ߇´≈≈å megakaryocyte √«à ¡ °∫—°≈‰° telomere maintenance À“°¡°’“√°≈“¬
°∫—¡°’“√‡æ¡Ë‘¢πÈ÷¢Õß√–¥∫— serum thrombopoietin æ—π∏å¢Õ߬’π¥—ß°≈à“«®– àߺ≈„Àâ telomeres ¡’
(TPO) πÕ°®“°πæÈ’∫«“à ºªâŸ«É ¬ congenital amega- ¢π“¥ π—È≈߇√ÕË◊ ¬Êµ“¡°“√·∫ßà µ«—¢Õ߇´≈≈·å µ≈à –§√ßÈ—
karyocytic thrombocytopenia ¡’§«“¡‡ Ë’¬ß ·≈–‡¡◊ËÕ telomeres  —Èπ≈ß ¡“°®– àߺ≈„À⇴≈≈å
µàÕ°“√‡°‘¥‚√§ myelodysplastic syndrome ·∫àßµ—«≈¥≈ß À√◊ÕÀ¬ÿ¥·∫àß µ—«22 ≈—°…≥–∑“ß
·≈–‚√§¡–‡√Á߇¡Á¥‡≈◊Õ¥¢“«™π‘¥ acute myeloid §≈π‘°‘¢ÕߺªŸâ «É ¬ dyskeratosis congenita ª√–°Õ∫
leukemia ‰ª¥â«¬ triad ‰¥â·°à §«“¡º‘¥ª°µ‘¢Õ߇≈Á∫
(dystrophic nail) §«“¡º¥‘ª°µ¢‘Õߺ«‘Àπß— (lacy
°“√√—°…“™π‘¥‡¥’¬«∑’Ë “¡“√∂ ∑”„ÀâºâŸªÉ«¬ reticular skin pigmentation) ·≈–§«“¡º¥‘ª°µ‘
À“¬®“°‚√§‰¥â§◊Õ°“√ª≈Ÿ°∂à“¬‡´≈≈åµâ𰔇𑥇¡Á¥ ¢Õ߇¬Õ◊Ë∫ÿ(mucosal leukoplakia) §«“¡º¥‘ª°µ‘
‡≈Õ◊ ¥‚¥¬„π√–À«“à ß√Õ∑”°“√ª≈°Ÿ∂“à ¬‡´≈≈µå πâ °”‡π¥‘ ÕπË◊ √«à ¡¥«â ¬‰¥·â °à§«“¡º¥‘ª°µ¢‘Õß°√–¥°Ÿ‚§√ß √“â ß
‡¡Á¥‡≈◊Õ¥ °“√„À⇰≈Á¥‡≈◊Õ¥¡’§«“¡®”‡ªìπ„πºâŸªÉ«¬ ‡™àπ µ—«‡µ’Ȭ °√–¥Ÿ°æ√ÿπ (osteoporosis) ·≈–
∑¡Ë’¿’“«–‡°≈¥Á‡≈Õ◊ ¥µ”Ë°«“à 20,000 ‡´≈≈/å ≈∫.¡¡.20 °√–¥Ÿ°§¥ (scoliosis) §«“¡º‘¥ª°µ‘∑“ß√–∫∫
ª√– “∑ ‡™àπ æ—≤π“°“√™â“ (developmental
Dyskeratosis congenita delay) °“√∑√ßµ—«∑Ë’º‘¥ª°µ‘(ataxia) §«“¡º‘¥
‚√§ dyskeratosis congenita ‡ªπì ‚√§∑®Ë’¥— ª°µ‘¢Õßøíπ (dental loss) §«“¡º‘¥ª°µ‘¢Õß
√–∫∫∑“߇¥π‘Õ“À“√ ‡™πà À≈Õ¥Õ“À“√µ∫’ (esoph-
Õ¬„Ÿà π°≈¡àÿ‚√§∑‚Ë’§√‚¡‚´¡¡§’«“¡‰¡‡à  ∂¬’√(chromo- ageal stricture) ·≈– §«“¡º‘¥ª°µ‘¢Õß√–∫∫
some instability disorder) ‡™àπ‡¥’¬«°—∫‚√§ ∑“߇¥‘πªí  “«–·≈–√–∫∫ ◊∫æ—π∏ÿå ‡™àπ hypogo-
Fanconi anemia ‚¥¬¡°’“√∂“à ¬∑Õ¥∑“ßæπ—∏°ÿ√√¡ nadism ·≈– undescended testes ºªŸâ «É ¬∫“ß√“¬
‰¥∑â ß—È X-linked recessive, autosomal recessive Õ“®æ∫«“à ¡§’«“¡º¥‘ª°µ¢‘Õß√–∫∫À“¬„® ‡™πà °“√
·≈– autosomal dominant ∑È—ßπ’È°“√∂à“¬∑Õ¥ ‡°‘¥æ—ߺ◊¥„πªÕ¥ (pulmonary fibrosis) ·≈–
∑“ßæπ—∏°ÿ√√¡·∫∫ X-linked recessive æ∫‰¥∫â Õà ¬ º¡ÀßÕ°À√◊Õ√à«ß‡√Á«°«à“ª°µ‘(premature hair
∑Ë’ ÿ¥ª√–¡“≥√âÕ¬≈– 70 ¢Õߺ⟪ɫ¬ ·≈–∑”„À⇰‘¥ graying)  “‡Àµÿ¢Õß°“√‡ ’¬™’«‘µ∑’Ë ”§—≠∑Ë’ ÿ¥„π
§«“¡º‘¥ª°µ‘∑Ë’√ÿπ·√ß∑’Ë ÿ¥21 ¬’π∑’Ëæ∫«à“¡’§«“¡ ºâŸªÉ«¬ dyskeratosis congenita ‰¥â·°à ¿“«–
¡—æπ—∏°å ∫—‚√§ dyskeratosis congenita §Õ◊ DKC1 ‰¢°√–¥°ŸΩÕÉ æ∫‰¥ªâ √–¡“≥ √Õâ ¬≈– 50 ¢ÕߺªâŸ«É ¬
·≈– TERC ¬π’ DKC ´ß÷Ë®–¡§’«“¡ ¡—æπ—∏°å ∫—°≈‰° πÕ°®“°πªÈ’√–¡“≥√Õâ ¬≈– 10 ¢ÕߺªŸâ «É ¬¬ß—¡§’«“¡
pseudouridilation ¢Õß nascent rRNA, ribosome ‡ ’ˬß∑Ë’®–‡°‘¥ myelodysplastic syndrome ·≈–
biogenesis ·≈– telomere elongation πÕ°®“° ¡’·π«‚πâ¡∑Ë’®–æ—≤𓉪‡ªìπ‚√§¡–‡√Áß ‰¥â·°à¡–‡√Áß
πÈ’°“√°≈“¬æ—π∏å¢Õ߬’π DKC1 ¬—ßæ∫‰¥â„π‚√§ ‡¡¥Á‡≈Õ◊ ¥¢“«™π¥‘ acute myeloid leukemia ·≈–
Hoyeraal-Hreidarsson (HH) syndrome ‚√§ HH solid tumor ‚¥¬‡©æ“–Õ¬“à ߬ßË‘¡–‡√ßÁ squamous
syndrome ¡’≈—°…≥–¢Õß‚√§ª√–°Õ∫‰ª¥â«¬ cell carcinoma
¿“«–‰¢°√–¥°ŸΩÕÉ °“√‡®√≠‘ ‡µ∫‘‚µ ∑ºË’¥‘ª°µ„‘π§√√¿å
(prenatal growth retardation) cerebellar °“√√—°…“ºâŸªÉ«¬ dyskeratosis congenita
hypoplasia·≈–¿“«–¿¡Ÿ§‘¡âÿ°π—∫°æ√Õà ß (immuno-

140 ªî¬– √®ÿ°‘®¬“ππ∑å

ª√–°Õ∫‰ª¥«â ¬°“√„À¬â “„π°≈¡ÿà androgens ‰¥·â °à æ∫«à“¡’maturation arrest ¢Õ߇´≈≈凡Á¥‡≈◊Õ¥
oxymetholone ¢π“¥ 0.5-1 ¡°./°°./«π— ´ßË÷®– myeoloid precursor ∑Ë’√–¬– promyelocyte-
™«à ¬ª√–§∫—ª√–§Õߪ≠í À“∑“ß‚≈Àµ‘«∑‘¬“‡æ¬’ß√–¬– myelocyte πÕ°®“°π√’ÈÕâ ¬≈– 10 ¢ÕߺªŸâ «É ¬æ∫«“à ¡’
Àπ÷Ë߇∑à“πÈ—π „π∑’Ë ÿ¥ºŸâªÉ«¬°Á®–¡’¿“«–‰¢°√–¥Ÿ°ΩÉÕ §«“¡‡ ¬’Ëß∑®’Ë–‡°¥‘‚√§ myelodysplastic syndrome
Õ¬“à ß√πÿ·√ß ®ß÷¡§’«“¡®”‡ªπì µÕâ ߉¥√â ∫—°“√ª≈°Ÿ∂“à ¬ ·≈–‚√§¡–‡√ßÁ‡¡¥Á‡≈Õ◊ ¥¢“«
‡´≈≈åµâ𰔇𑥇¡Á¥‡≈◊Õ¥ ‚¥¬Õ—µ√“°“√√Õ¥™’«‘µ  ”À√∫—°“√√°—…“ºªŸâ «É ¬‚√§ severe congenital
¢Õߺ⟪ɫ¬À≈—ß®“°°“√ª≈Ÿ°∂à“¬‡´≈≈åµâ𰔇𑥇¡Á¥ neutropenia π—Èπ æ∫«à“Õ—µ√“°“√√Õ¥™’«‘µ¢Õß
‡≈Õ◊ ¥¬ß—‰¡¥à π’°— ∑ß—Èπ‡’Ȫπì º≈¡“®“°√–∫∫°“√∑”ß“π ºâŸªÉ«¬‰¥â‡æË‘¡¢÷Èπ¡“°‡πË◊Õß¡“®“°°“√„™â¬“ G-CSF
∑º’Ë¥‘ª°µ¢‘“â ßµπâ ∑’˺ªâŸ«É ¬¡¡’“°Õà πÀπ“â ‚¥¬‡©æ“– °“√ª≈Ÿ°∂à“¬‡´≈≈åµâ𰔇𑥇¡Á¥‡≈◊Õ¥®–‡¢â“¡“¡’
Õ¬“à ߬ßË‘√–∫∫À“¬„®·≈–À≈Õ¥‡≈Õ◊ ¥ ∫∑∫“∑„πºªŸâ «É ¬∑‰’Ë¡µà Õ∫ πÕßµÕà ¬“ G-CSF ·≈–
ºªâŸ«É ¬∑¡’Ë¿’“«– myelodysplastic syndrome À√Õ◊
Severe congenital neutropenia ‚√§¡–‡√Á߇¡Á¥‡≈◊Õ¥¢“« ‚¥¬Õ—µ√“°“√√Õ¥™’«‘µ¢Õß

‚√§ severe congenital neutropenia ¡’ ºªâŸ«É ¬∑‰’Ë¥√â ∫—°“√ª≈°Ÿ∂“à ¬‡´≈≈å µπâ °”‡π¥‘‡¡¥Á‡≈Õ◊ ¥
√“¬ß“π‡ªπì §√ß—È·√°„πªï 1956 ‚¥¬ Kostmann23 ‡πÕ◊Ëß®“°‰¡µà Õ∫ πÕßµÕà G-CSF Õ¬∑Ÿà √’ËÕâ ¬≈– > 80
∑ß—ÈπºÈ’ªŸâ «É ¬‚√§ severe congenital neutropenia  «à π ‡¡Ë◊Õ‡ª√’¬∫‡∑’¬∫°—∫Õ—µ√“°“√√Õ¥™’«‘µ¢Õߺ⟪ɫ¬∑Ë’
„À≠¡à °’“√∂“à ¬∑Õ¥∑“ßæπ—∏°ÿ√√¡·∫∫ sporadic À√Õ◊ ‰¥â√—∫°“√ª≈Ÿ°∂à“¬‡´≈≈µå πâ °”‡π¥‘‡¡¥Á‡≈Õ◊ ¥‡πÕ◊Ëß®“°
autosomal dominant ·≈– «à ππÕâ ¬¡°’“√∂“à ¬∑Õ¥ ¡’¿“«– myelodysplastic syndrome À√◊Õ ‚√§
∑“ßæ—π∏ÿ°√√¡·∫∫ autosomal recessive ¬’π∑’Ë ¡–‡√ßÁ‡¡¥Á‡≈Õ◊ ¥¢“« Õ¬∑Ÿà ªË’√–¡“≥√Õâ ¬≈– 3025
æ∫«à“¡’§«“¡ —¡æ—π∏å°—∫‚√§ severe congenital
neutropenia §◊Õ ¬’π ELA2 ∑—Èßπ’Ⱥ⟪ɫ¬¡“°°«à“ Thrombocytopenia with absent radii (TAR)
√âÕ¬≈– 80 æ∫«à“¡’°“√°≈“¬æ—π∏å ¢Õ߬’π ELA2 ºâŸªÉ«¬ TAR  à«π„À≠à¡’°“√∂à“¬∑Õ¥∑“ß
‚¥¬™π‘¥¢Õß°“√°≈“¬æ—π∏å∑’Ëæ∫ à«π„À≠à ‰¥â·°à æ—π∏ÿ°√√¡·∫∫ autosomal recessive ºâŸªÉ«¬∫“ß
missense, nonsense À√Õ◊ spice site defect24 ¬π’  à«π¡’°“√∂à“¬∑Õ¥∑“ßæπ—∏°ÿ√√¡·∫∫ autosomal
ÕË◊π∑Ë’æ∫«à“¡’§«“¡‡°’ˬ«¢âÕß°—∫°“√‡°‘¥‚√§‰¥â·°à dominant ªí®®ÿ∫—π æ∫«à“¬’π RBM8A ¡’§«“¡
HAX1, G6PC3, VPS45A, JAGN1 ·≈– CSF3R  ¡—æπ—∏°å ∫—°“√‡°¥‘‚√§26
≈—°…≥–∑“ߧ≈‘π‘°ª√–°Õ∫¥â«¬ ‡¡Á¥‡≈◊Õ¥ ≈—°…≥–∑“ߧ≈‘π‘°¢Õߺ⟪ɫ¬‚√§ TAR
¢“«™π‘¥ neutrophil „π√–¥—∫µ”Ë¡“° (severe ª√–°Õ∫‰ª¥â«¬¿“«–‡°≈Á¥‡≈◊Õ¥µ”Ë„π√–¬–·√°
neutropenia) „π√–¬– 2-3 ‡¥◊Õπ·√°À≈—ߧ≈Õ¥ §≈Õ¥ √à«¡°—∫¡’§«“¡º‘¥ª°µ‘¢Õß°√–¥Ÿ°‰¥â·°à
‚¥¬®–æ∫«à“¡’√–¥—∫‡¡Á¥‡≈◊Õ¥¢“«™π‘¥ neutrophil bilateral radial aplasia ‡¡Ë◊Õµ√«®‰¢°√–¥Ÿ°®–
À√Õ◊ absolute neutrophil counts (ANC) πÕâ ¬ æ∫«“à ¡°’“√≈¥®”π«π≈ߢÕ߇´≈≈å megakaryocyte
°«“à 200 ‡´≈≈/å ≈∫.¡¡. √«à ¡°∫—¡°’“√µ¥‘‡™Õ◊È√πÿ·√ß Õ¬à“߉√°Áµ“¡„πºŸâªÉ«¬ à«π„À≠à√–¥—∫¢Õ߇°≈Á¥
‡¡ÕË◊ µ√«®‰¢°√–¥°Ÿ „πºâŸªÉ«¬ severe congenital ‡≈Õ◊ ¥®–‡æ¡Ë‘¢π÷ȇÕß„π™«à ßÀ≈ß—¢«∫ª·ï √° πÕ°®“°πÈ’
neutropenia ®–æ∫«à“¡’ª√‘¡“≥‡´≈≈凡Á¥‡≈◊Õ¥„π ºŸâªÉ«¬ TAR ¬—ß¡’§«“¡‡ Ë’¬ßµàÕ°“√‡°‘¥‚√§¡–‡√Áß
‰¢°√–¥°Ÿ∑ª’Ë°µ‘(normocellular marrow) ·µ®à – ‚¥¬‡©æ“–Õ¬à“߬ˑߡ–‡√Á߇¡Á¥‡≈◊Õ¥¢“«™π‘¥ acute

¿“«–º¥‘ª°µ¢‘Õß°≈¡ÿà‚√§‰¢°√–¥Ÿ°ΩÉÕ·µà°”‡π‘¥ Inherited Bone Marrow Failure Syndromes 141

mlyymeplohiodblleausktiecmlieau(kAeMmiLa)2(7ALL) ·≈– acute ÀπË÷߉¡à‰¥â√—∫°“√«‘π‘®©—¬∑Ë’∂Ÿ°µâÕß °“√∑’Ë·æ∑¬åºâŸ
√—°…“¡’§«“¡√Ÿâ·≈–§«“¡‡¢â“„®‡°Ë’¬«°—∫≈—°…≥–∑“ß
∫∑ √ÿª §≈‘π‘°¢ÕߺŸâªÉ«¬ °“√«‘π‘®©—¬ °“√ àßµ√«®‡æË‘¡‡µ‘¡
°≈àÿ¡‚√§‰¢°√–¥Ÿ°ΩÉÕ∑Ë’‡°‘¥¢÷ÈπµÈ—ß·µà°”‡π‘¥ ∑“ßÀâÕߪؑ∫—µ‘°“√ (µ“√“ß∑’Ë9.1) ‡æË◊Õ∑’˺⟪ɫ¬„π
°≈¡àÿ‚√§¥ß—°≈“à «‰¥√â ∫—°“√√°—…“∑∂Ë’°ŸµÕâ ßµÕà ‰ª
æ∫‰¥§â Õà π¢“â ßπÕâ ¬„π‡«™ªØ∫‘µ—‘∑”„Àºâ ªâŸ«É ¬®”π«π

µ“√“ß∑Ë’9.1 §«“¡º¥‘ª°µ∑‘“ßæπ—∏°ÿ√√¡·≈–°“√ ßà µ√«®∑“ßÀÕâ ߪØ∫‘µ—°‘“√‡æ¡‘ˇµ¡‘„π°≈¡ÿà ‚√§‰¢°√–¥°Ÿ
ΩÕÉ ∑‡Ë’°¥‘¢πÈ÷µßÈ—·µ°à ”‡π¥‘

‚√§ °“√∂à“¬∑Õ¥∑“ßæπ—∏ÿ°√√¡ ¬π’∑¡’Ë §’«“¡‡°¬Ë’«¢Õâß °“√ ßàµ√«®∑“ßÀÕâߪØ∫‘µ—°‘“√
Fanconi anemia AR FANCA, FANCC, ‡æË‘¡‡µ‘¡
Induced chromosomal breakage
FANCD1, FANCD2, test
FANCE, FANCF, Western blot analysis for
FANCG, FANCI, Fancd2-I
FANCJ, FANCL, Complementation group
FANCM, FANCN, analysis
FANCO, FANCP Mutation analysis

X-linked FANCB eADA activity
Diamond-blackfan anemia AD RPS19, RPS24, RPS17, Serum trypsinogen, pancreatic
RPL35A, RPL5, RPL11 isoamylase
Shwachman-Diamond AR SBDS Serum thrombopoietin
syndrome AR C-MPL Telomere length
Congenital amegakaryocytic X-linked DKC1 (dyskerin) Telomere length
thrombocytopenia AD TERC, TERT, TINF2
Dyskeratosis congenita AR NOP10, NHP2
Severe congenital neutropenia AD ELANE, GFI1,CXCR4
AR HAX1, G6PC3, VPS45A
JAGN1, CSF3R
Thrombocytopenia with absent AR RBM8A
radii
AR = autosomal recessive, AD = autosomal dominant

142 ªî¬– √®ÿ°‘®¬“ππ∑å

‡Õ° “√Õ“âßÕß‘ risk factor analysis for engraftment and survival.
1. Jagannathan-Bogdan M, Zon LI. Hematopoiesis. Biol Blood Marrow Transplant. 2007;13(9):
1073-1082.
Development. 2013;140(12):2463-2467. 12. Flygare J, Kiefer T, Miyake K, Utsugisawa T,
2. Pine M, Walter AW. Pancytopenia in hospitalized Hamaguchi I, Da Costa L et al. Deficiency of
ribosomal protein S19 in CD34+ cells generated
children: a five-year review. J Pediatr Hematol by siRNA blocks erythroid development and
Oncol. 2010;32(5):e192-194. mimics defects seen in Diamond-Blackfan
3. Rieger MA, Schroeder T. Hematopoiesis. Cold anemia. Blood. 2005;105(12):4627-4634.
Spring Harb Perspect Biol. 2012;4(12). 13. Da Costa L, Narla A, Mohandas N. An update
4. Chirnomas SD, Kupfer GM. The inherited bone on the pathogenesis and diagnosis of Diamond-
marrow failure syndromes. Pediatr Clin North Blackfan anemia. F1000Research 2018;7.
Am. 2013;60(6):1291-1310. F1000Res. 2018;7(pii: F1000 Faculty Rev-1350):
5. Shimamura A, Alter BP. Pathophysiology and 1-9.
management of inherited bone marrow failure 14. Halperin DS, Freedman MH. Diamond-blackfan
syndromes. Blood Rev. 2010;24(3):101-122. anemia: etiology, pathophysiology, and treatment.
6. Giampietro PF, Verlander PC, Davis JG, Am J Pediatr Hematol Oncol. 1989;11(4):380-
Auerbach AD. Diagnosis of Fanconi anemia in 394.
patients without congenital malformations: an 15. Shwachman H, Diamond LK, Oski FA, Khaw
international Fanconi Anemia Registry Study. KT. The Syndrome of Pancreatic Insufficiency
Am J Med Genet. 1997;68(1):58-61. and Bone Marrow Dysfunction. J Pediatr. 1964;
7. Scheckenbach K, Morgan M, Filger-Brillinger 65(5):645-663.
J, Sandmann M, Strimling B, Scheurlen W et al. 16. Rujkijyanont P, Watanabe K, Ambekar C, Wang
Treatment of the bone marrow failure in Fanconi H, Schimmer A, Beyene J et al. SBDS-
anemia patients with danazol. Blood Cells Mol deficient cells undergo accelerated apoptosis
Dis. 2012;48(2):128-131. through the Fas-pathway. Haematologica. 2008;
8. Velazquez I, Alter BP. Androgens and liver 93(3):363-371.
tumors: Fanconiûs anemia and non-Fanconiûs 17. Rujkijyanont P, Adams SL, Beyene J, Dror Y.
conditions. Am J Hematol. 2004;77(3):257-267. Bone marrow cells from patients with
9. Gillio AP, Gabrilove JL. Cytokine treatment of Shwachman-Diamond syndrome abnormally
inherited bone marrow failure syndromes. Blood. express genes involved in ribosome biogenesis
1993;81(7):1669-1674. and RNA processing. Br J Haematol. 2009;
10. Rackoff WR, Orazi A, Robinson CA, Cooper 145(6):806-815.
RJ, Alter BP, Freedman MH et al. Prolonged 18. Rujkijyanont P, Beyene J, Wei K, Khan F, Dror
administration of granulocyte colony-stimulating Y. Leukaemia-related gene expression in bone
factor (filgrastim) to patients with Fanconi marrow cells from patients with the preleukaemic
anemia: a pilot study. Blood. 1996;88(5):1588-1593. disorder Shwachman-Diamond syndrome. Br J
11. Gluckman E, Rocha V, Ionescu I, Bierings M,
Harris RE, Wagner J et al. Results of unrelated
cord blood transplant in fanconi anemia patients:

¿“«–º‘¥ª°µ‘¢Õß°≈àÿ¡‚√§‰¢°√–¥Ÿ°ΩÉÕ·µ°à”‡π‘¥ Inherited Bone Marrow Failure Syndromes 143

Haematol. 2007;137(6):537-544. 2011;23(1):21-26.
19. Ballmaier M, Germeshausen M. Congenital 25. Donadieu J, Fenneteau O, Beaupain B, Mahlaoui

amegakaryocytic thrombocytopenia: clinical N, Chantelot CB. Congenital neutropenia:
presentation, diagnosis, and treatment. Semin diagnosis, molecular bases and patient
Thromb Hemost. 2011;37(6):673-681. management. Orphanet J Rare Dis. 2011;6:26.
20. Geddis AE. Congenital amegakaryocytic throm- 26. Albers CA, Newbury-Ecob R, Ouwehand WH,
bocytopenia. Pediatr Blood Cancer. 2011;57 Ghevaert C. New insights into the genetic basis
(2):199-203. of TAR (thrombocytopenia-absent radii)
21. Bessler M, Wilson DB, Mason PJ. Dyskeratosis syndrome. Curr Opin Genet Dev. 2013;23(3):
congenita. FEBS Lett. 2010;584(17):3831-3838. 316-323.
22. Marrone A, Dokal I. Dyskeratosis congenita: 27. Toriello HV. Thrombocytopenia Absent Radius
molecular insights into telomerase function, Syndrome. 2009 Dec 8 [Updated 2016 Dec 8].
ageing and cancer. Expert Rev Mol Med. 2004;6 In: Adam MP, Ardinger HH, Pagon RA, Wallace
(26):1-23. SE, Bean LJH, Stephens K et al., editors.
23. Kostmann R. Infantile genetic agranulocytosis; GeneReviews((R)): Seattle (WA): University
agranulocytosis infantilis hereditaria. Acta of Washington, Seattle; 1993-2019. Available
Paediatr Suppl. 1956;45(Suppl 105):1-78. from: https://www.ncbi.nlm.nih.gov/books/
24. Boztug K, Klein C. Genetic etiologies of severe NBK23758/
congenital neutropenia. Curr Opin Pediatr.



∫∑∑’Ë

‚√§¿¡Ÿ §‘ÿâ¡°—π∫°æ√Õàߪ∞¡¿Ÿ¡‘

10 Primary Immunodeficiency Disease

¬‘À«“  ÿ¢ «— ¥Ï‘

‚√§¿¡Ÿ§‘¡âÿ°π—∫°æ√Õà ߪ∞¡¿¡Ÿ‘À√Õ◊ primary 5. πÈ”Àπ—°µ—«‰¡à‡æ‘Ë¡ À√◊Õ¡’°“√‡®√‘≠‡µ‘∫‚µ
immunodeficiency disease (PIDD) ‡ªìπ ∑º’Ë¥‘ª°µ„‘π‡¥°Á∑“√°
‚√§æ—π∏ÿ°√√¡∑Ë’‡°Ë’¬«¢âÕß°—∫§«“¡º‘¥ª°µ‘∑“ß 6. ¡’°“√µ‘¥‡™È◊Õ„π™È—π„µâº‘«Àπ—ßÀ√◊ÕÕ«—¬«–
¿Ÿ¡‘§âÿ¡°—π·µà°”‡π‘¥ ºâŸªÉ«¬¡—°¡’°“√µ‘¥‡™È◊Õ‰¥â∫àÕ¬ ¿“¬„π´È”Ê
·≈–√πÿ·√ß Õ°’∑ߗȬߗՓ®æ∫‚√§¿¡Ÿ§‘¡âÿ°π—µ“â πµπ‡Õß 7. ¡’‡™È◊Õ√“„π™àÕߪ“°À√◊Õº‘«Àπ—ß„πºŸâ∑’Ë¡’
(autoimmune disorder) ÕπË◊Ê ‡™πà ‚√§ systemic Õ“¬¡ÿ“°°«“à 1 ªï
lupus erythematosus (SLE) À√Õ◊‚√§¡–‡√ßÁ√«à ¡¥«â ¬ 8. ®”‡ªπì µÕâ ß„™¬â “µ“â π®≈ÿ™æ’∑“ßÀ≈Õ¥‡≈Õ◊¥
‡πÕË◊ß®“°‚√§¿¡Ÿ§‘¡âÿ°π—∫°æ√Õà ߪ∞¡¿¡Ÿæ‘∫‰¥‰â ¡∫à Õà ¬ ‡æÕ◊Ë√°—…“°“√µ¥‘‡™ÕÈ◊
¥—ßπÈ—π°àÕπ„Àâ°“√«‘π‘®©—¬‚√§πÈ’‡√“§«√π÷°∂÷ß¿“«– 9. ¡’°“√µ‘¥‡™È◊Õ„πÕ«—¬«–¿“¬„πÀ√◊Õµ‘¥‡™È◊Õ
À√◊Õ‚√§Õ◊Ëπ∑’Ë∑”„À⇰‘¥°“√µ‘¥‡™◊Èե⫬‡ ¡Õ ‰¥â·°à „π°√–· ‚≈Àµ‘
°“√µ‘¥‡™◊ÈÕ human immunodeficiency virus 10. ¡’ª√–«—µ‘‚√§¿Ÿ¡‘§ÿâ¡°—π∫°æ√àÕߪ∞¡¿Ÿ¡‘
(HIV) ·≈– protein losing enteropathy1 ‡ªπì µπâ „π§√Õ∫§√«—
‡¡Õ◊ˇ√“ “¡“√∂·¬°¿“«–¥ß—°≈“à «‰¥·â ≈«â ®ß÷∑”„À‡â √“ Õ∫ÿµ—°‘“√≥¢å Õß‚√§¿¡Ÿ§‘¡âÿ°π—∫°æ√Õà ߪ∞¡¿¡Ÿ‘
π°÷∂ß÷‚√§¿¡Ÿ§‘¡âÿ°π—∫°æ√Õà ߪ∞¡¿¡Ÿ¡‘“°¢πÈ÷∑“ß¡≈Ÿπ∏‘‘ ¡’§«“¡À≈“°À≈“¬„π·µà≈–ª√–‡∑»∑—Ë«‚≈°µ—Èß·µà
Jeffrey Model ª√–‡∑» À√∞—Õ‡¡√°‘“‰¥¡â °’“√‡º¬ 1:2,000 ∂÷ß 1:10,000 ¢Õ߇¥Á°‡°‘¥¡’™’«‘µ3 ∑—ÈßπÈ’
·æ√¢à Õâ ¡≈Ÿ‡°¬Ë’«°∫—‚√§°≈¡àÿπ„È’À·â æ∑¬·å ≈–§π∑«—ˉª‰¥â æ∫Õ—µ√“°“√‡°‘¥‚√§„π‡¥Á°‡æ»™“¬ Ÿß°«à“‡¥Á°‡æ»
√∫—∑√“∫∑ß—ÈπÕ’È“°“√∑‡Ë’ªπì  ≠—≠“≥‡µÕ◊π¿¬—10ª√–°“√ À≠ß‘„π ¥— «à π 5:1
¢Õß‚√§¿¡Ÿ§‘¡ÿâ °π—∫°æ√Õà ߪ∞¡¿¡Ÿ‘ª√–°Õ∫¥«â ¬2 °“√·∫àß°≈ÿà¡‚√§¿Ÿ¡‘§âÿ¡°—π∫°æ√àÕߪ∞¡¿Ÿ¡‘
1. ¡’°“√µ‘¥‡™È◊Õ„πÀŸ™—Èπ°≈“ߵȗ߷µà 4 §√—Èß  “¡“√∂·∫ßà µ“¡√–∫∫¿¡Ÿ§‘¡âÿ°π—∑º’Ë¥‘ª°µ‰‘¥‡â ªπì 4
¢πÈ÷‰ª„π 1 ªï √–∫∫ ‰¥â·°à B cell, T cell, phagocyte ·≈–
2. ¡’‰´π— Õ—°‡ ∫·∫∫√ÿπ·√ߵȗ߷µà 2 §√È—ß complement „πªï æ.». 2560 International
¢π÷ȉª„π 1 ªï Union of Immunological Societies (IUIS)
3. µÕâ ß„™¬â “µ“â π®≈ÿ™æ’ π“πµßÈ—·µà 2 ‡¥Õ◊𠉥â·∫àß°≈àÿ¡‚√§¿Ÿ¡‘§âÿ¡°—π∫°æ√àÕߪ∞¡¿Ÿ¡‘ÕÕ°‡ªìπ
¢πÈ÷‰ª„π 1 ªï 9 °≈¡àÿ‚√§4
4. ¡°’“√µ¥‘‡™Õ◊È„πªÕ¥µß—È·µà 2 §√ßÈ—¢π÷ȉª„π 1. ‚√§∑¡’˧’«“¡º¥‘ª°µ¢‘Õ߇¡¥Á‡≈Õ◊¥¢“« B
1 ªï ·≈– T cell (combined B-and T-cell immuno-

146 ¬À‘ «“  ¢ÿ «— ¥‘Ï

deficiency) ‰¥â·°à ‚√§ severe combined Õ°—‡ ∫ (autoinflammatory disorder) ‰¥·â °à ‚√§
immunodeficiency (SCID), MHC class I familial Mediterranean fever
deficiency ·≈– MHC class II deficiency
8. ‚√§∑’Ë¡’§«“¡ —¡æ—π∏å°—∫°“√¢“¥ com-
2. ‚√§∑¡Ë’§’«“¡º¥‘ª°µ¢‘Õ߇¡¥Á‡≈Õ◊¥¢“« B plement (complement deficiency)
cell „π°“√ √â“ß·Õπµ‘∫Õ¥’(predominantly
antibody deficiency) ‰¥·â °à ‚√§ agammaglobu- 9. ‚√§∑¡Ë’§’«“¡º¥‘ª°µ∑‘“ß phenotype ∑Ë’
linemia, common variable immunodeficiency ‡°¥‘®“°Õ∑‘∏æ‘≈¢Õß ¿“«–·«¥≈Õâ ¡ (phenocopies
(CVID), selective IgA deficiency, IgG sub- of PID) ‰¥·â °à ‚√§ autoantibody µÕà IL-17 ·≈–/
class deficiency, specific antibody deficiency À√Õ◊ IL-22
·≈– transient hypogammaglobulinemia of
infancy ¢âÕ¡Ÿ≈®“°µà“ߪ√–‡∑» æ∫«à“‚√§∑Ë’¡’§«“¡
º¥‘ª°µ‘¢Õ߇¡Á¥‡≈◊Õ¥¢“« B cell ‡ªìπ‚√§¿Ÿ¡‘§âÿ¡
3. ‚√§∑Ë’¡’§«“¡º‘¥ª°µ‘¢Õß∑È—ß®”π«πÀ√◊Õ °—π∫°æ√àÕߪ∞¡¿Ÿ¡‘∑’Ëæ∫∫àÕ¬∑’Ë ÿ¥ ‚¥¬æ∫‰¥â
Àπâ“∑’Ë¢Õ߇¡Á¥‡≈◊Õ¥¢“« phagocyte (congenital ª√–¡“≥√âÕ¬≈– 50 ¢ÕߺŸâªÉ«¬°≈ÿà¡‚√§¿Ÿ¡‘§âÿ¡°—π
defects of phagocyte numbers function ) ‰¥·â °à ∫°æ√àÕߪ∞¡¿Ÿ¡‘∑È—ßÀ¡¥3  ”À√—∫‚√§∑Ë’¡’§«“¡º‘¥
‚√§ severe congenital neutropenia, cyclic ª°µ‘¢Õ߇¡Á¥‡≈◊Õ¥¢“« B ·≈– T cell ‚√§∑Ë’¡’
neutropenia, Kostmann disease, leukocyte §«“¡º‘¥ª°µ‘¢Õ߇¡Á¥‡≈◊Õ¥¢“« phagocyte À√◊Õ
adhesion defect (LAD), chronic granulomatous °≈ÿà¡Õ“°“√∑’Ë¡’¿Ÿ¡‘§ÿâ¡°—π∫°æ√àÕß æ∫‰¥â√Õß≈ß¡“
disease (CGD) ·≈– Mendelian susceptibility §¥‘‡ªπì √Õâ ¬≈– 10 ∂ß÷√Õâ ¬≈– 20 ¢ÕߺªâŸ«É ¬∑ß—ÈÀ¡¥5
to mycobacterial disease (MSMD) ®“°°“√»°÷…“¢Õß æ™—π’·≈–§≥– ªï æ.». 2552 „π
ºªâŸ«É ¬‚√§¿¡Ÿ§‘¡âÿ°π—∫°æ√Õà ߪ∞¡¿¡Ÿ®‘”π«π 67 √“¬
4. °≈¡àÿÕ“°“√∑¡Ë’¿’¡Ÿ§‘¡ÿâ °π—∫°æ√Õà ß (syn- ∑‚Ë’√ß欓∫“≈»√‘√‘“™ æ∫«“à √Õâ ¬≈– 52 ¢ÕߺªâŸ«É ¬ ‰¥·â °à
drome with immunodeficiency) ‰¥â·°à ‚√§ ºªŸâ «É ¬‚√§∑¡Ë’§’«“¡º¥‘ª°µ¢‘Õ߇¡¥Á‡≈Õ◊¥¢“« B cell
Wiskott-Aldrich syndrome (WAS), Digeorge √âÕ¬≈– 25 ‰¥â·°àºŸâªÉ«¬‚√§∑’Ë¡’§«“¡º‘¥ª°µ‘¢Õß
syndrome, hyper-IgE syndrome ·≈– ataxia ‡¡¥Á‡≈Õ◊¥¢“« B ·≈– T cell √Õâ ¬≈– 11 ‰¥·â °ºà ªŸâ «É ¬
telangiectasia °≈ÿà¡Õ“°“√∑’Ë¡’¿Ÿ¡‘§âÿ¡°—π∫°æ√àÕß ·≈–ºâŸªÉ«¬‚√§
∑Ë’¡’§«“¡º‘¥ª°µ‘¢Õ߇¡Á¥‡≈◊Õ¥¢“« phagocyte
5. ‚√§∑’Ë¡’§«“¡º‘¥ª°µ‘¢Õß°“√§«∫§ÿ¡ √Õâ ¬≈– 106
¿¡Ÿ§‘¡âÿ°π— (disease of immune dysregulation)
‰¥·â °à ‚√§ Chediak-Higashi syndrome (CHS), À≈°—„π°“√µ√«®·≈–¥·Ÿ≈√°—…“ºªŸâ «É ¬∑ ’Ëß ¬—
autoimmune lymphoproliferative syndrome «à“¡’‚√§¿Ÿ¡‘§ÿâ¡°—π∫°æ√àÕߪ∞¡¿Ÿ¡‘„Àâæ‘®“√≥“µ“¡
(ALPS) µ“√“ß∑’Ë10.17, 8 ´ßË÷¥®Ÿ“° 4 ¢Õ⠥ߗµÕà ‰ªπ’È

6. ‚√§∑’Ë¡’§«“¡º‘¥ª°µ‘¢Õß√–∫∫¿Ÿ¡‘§âÿ¡°—π 1. Õ“¬∑ÿ‡’Ë√¡‘Ë¡°’“√µ¥‘‡™ÕÈ◊§√ß—È·√° (onset)
∑‰Ë’¡®à ”‡æ“– (defect of innate immunity) ‰¥·â °à 2. µ”·Àπßà ∑¡’Ë°’“√µ¥‘‡™Õ◊È (organ)
‚√§ GATA-2 deficiency ·≈– IRAK4 deficiency 3. ™π¥‘¢Õ߇™ÕÈ◊°Õà ‚√§ (organism)
4. ≈°—…≥–懑»…¢Õß·µ≈à –‚√§ (other)
7. ‚√§∑’Ë¡’§«“¡º‘¥ª°µ‘¢Õߪؑ°‘√‘¬“°“√

‚√§¿¡Ÿ §‘¡âÿ °—π∫°æ√Õàߪ∞¡¿¡Ÿ ‘Primary Immunodeficiency Disease 147

°“√µ√«®∑“ßÀâÕߪؑ∫—µ°‘ “√ 1.1.1 ®”π«π‡¡¥Á‡≈Õ◊¥¢“« ‡™πà ®”π«π‡¡¥Á
°“√µ√«®∑“ßÀâÕߪؑ∫—µ‘°“√∑Ë’ ”§—≠∑“ß ‡≈◊Õ¥¢“« lymphocyte ∑È—ßÀ¡¥ (absolute
lymphocyte count) ¿“«–∑’Ë¡’‡¡Á¥‡≈◊Õ¥¢“«
√–∫∫¿Ÿ¡‘§âÿ¡°—π·∫à߇ªìπ°“√µ√«®‡æË◊Õ§—¥°√Õß·≈– lymphocyte µ”Ë (lymphopenia) ®–æ∫„πºªâŸ«É ¬
°“√µ√«®·∫∫‡©æ“–‡®“–®ßµ“¡°≈àÿ¡‚√§¿Ÿ¡‘§ÿâ¡°—π ‚√§∑¡’˧’«“¡º¥‘ª°µ¢‘Õ߇¡¥Á‡≈Õ◊¥¢“« T-cell ‡™πà
∫°æ√Õà ߪ∞¡¿¡Ÿ·‘µ≈à –™π¥‘ ‚√§ severe combined immunodeficiency
(SCID)∑ßÈ—π‡È’¥°ÁÕ“¬µÿ”Ë°«“à 1ªï®”π«π‡¡¥Á‡≈Õ◊¥¢“«
1. °“√µ√«®‡æÕË◊§¥—°√Õß‚√§¿¡Ÿ§‘¡ÿâ °π—∫°æ√Õà ß lymphocyte ∑ßÈ—À¡¥§«√¡§’“à ¡“°°«“à 2,500 ‡´≈≈/å
ª∞¡¿¡Ÿ‘ ≈∫.¡¡.8  ”À√—∫‡¥Á°‚µÀ√◊ÕºŸâ„À≠à§à“ª°µ‘¢Õß
®”π«π‡¡Á¥‡≈◊Õ¥¢“« lymphocyte ∑È—ßÀ¡¥§«√
1.1 °“√µ√«® complete blood count ¡’§à“¡“°°«à“ 1,500 ‡´≈≈å/≈∫.¡¡.8 ºâŸªÉ«¬‚√§
(CBC) X-linked agammaglobulinemia ·≈– hyper-IgM

‡√“ “¡“√∂„™âº≈°“√µ√«®π—∫‡¡Á¥‡≈◊Õ¥ ‡æË◊Õ
∫àß∫Õ°∂÷ߧ«“¡º‘¥ª°µ‘¢Õß‚√§¿Ÿ¡‘§ÿâ¡°—π∫°æ√àÕß
ª∞¡¿¡Ÿ∫‘“ß‚√§‰¥â ¥ß—πÈ’

µ“√“ß∑’Ë 10.1 ≈—°…≥–Õ“°“√ Õ“¬ÿ∑Ë’‡√‘Ë¡¡’Õ“°“√ ™π‘¥¢Õ߇™◊ÈÕ·≈–≈—°…≥–摇»…„πºâŸªÉ«¬‚√§¿Ÿ¡‘§ÿâ¡°—π
∫°æ√Õà ߪ∞¡¿¡Ÿ™‘𥑵“à ßÊ (√«∫√«¡¢Õâ ¡≈Ÿ®“°‡Õ° “√Õ“â ßÕß‘À¡“¬‡≈¢ 7, 8)

§«“¡º¥‘ ª°µ¢‘ Õ߇¡¥Á ‡≈Õ◊¥ §«“¡º¥‘ ª°µ¢‘ Õ߇¡¥Á ‡≈Õ◊¥ §«“¡º¥‘ ª°µ¢‘ Õ߇¡¥Á ‡≈Õ◊¥ §«“¡º‘¥ª°µ‘¢Õß
¢“« T cell ¢“« B cell ¢“« phagocyte complement

Õ“¬ÿ∑Ë’‡√Ë‘¡¡’°“√µ‘¥ πÕâ ¬°«“à 6 ‡¥◊Õπ ¡“°°«“à ‡∑“à °—∫ 6 ‡¥Õ◊π 4-5 ‡¥Õ◊πÀ√Õ◊À≈ß—®“°ππÈ— Õ“¬ÿ∑Ë’À≈“°À≈“¬
‡™È◊Õ§√È—ß·√° ‡¬Ë◊ÕÀâÿ¡ ¡ÕßÕ—°‡ ∫
µ”·Àπßà ∑¡’Ë°’“√µ¥‘ mucocutaneous µ‘¥‡™È◊Õ√–∫∫∑“߇¥‘πÀ“¬„® µ¥‘‡™Õ◊È„µâº‘«Àπ—ß ‡ÀßÕ◊° µ‘¥‡™Õ◊È„π°√–· ‡≈◊Õ¥ µ‘¥
‡™È◊Õ candidiasis ·∫∫√ÿπ·√ß ´”ÈÊ Õ“°“√∑“ß√–∫∫∑“ß Õ°—‡ ∫ µ‘¥‡™ÕÈ◊„π‡≈◊Õ¥ ‡™Õ◊È√–∫∫∑“߇¥π‘À“¬„®´È”Ê
‡≈È’¬ß‰¡‚à µ ∑Õâ ߇ ’¬‡√ÕÈ◊√—ß ‡¥π‘Õ“À“√‡√◊ÕÈ√—ß chronic ΩïÀπÕß∑’ËÕ«—¬«–¿“¬„π Bacteria: Pneumococci,
enteroviral meningoen- ·º≈À“¬™â“°«à“ª°µ‘ Neisseria
cephalitis
™π¥‘¢Õ߇™Õ◊È°Õà ‚√§ Bacteria: gram-positive, Bacteria: encapsulated Bacteria: catalase Systemic lupus
gram-negative bacteria, bacteria, Campylobacter, positive bacteria erythematosus, vasculitis
mycobacterium Mycoplasma
Viruses: CMV, EBV, Viruses: Enterovirus
Adenovirus, Varicella,
Enterovirus
Fungi: Candida, Fungi and parasites: Fungi : Candida,
Pneumocystis jiroveci Giardia, Cryptosporidia Aspergillus
≈—°…≥–摇»…¢Õß Graft versus host Autoimmunity,  –¥Õ◊À≈ÿ¥™“â ·º≈À“¬™â“
·µà≈–‚√§ disease, Postvaccination Lymphoreticular
disseminated BCG or malignancy: lymphoma,
varicella Postvaccination
paralytic polio

148 ¬‘À«“  ¢ÿ « —¥Ï‘

syndrome ∫“ß√“¬¡®’”π«π‡¡¥Á‡≈Õ◊¥¢“« neutrophil globulinemia
∑’˵”Ë°«à“ 1,500 ‡´≈≈å/≈∫.¡¡.7 (neutropenia) 2.1.2 °“√«—¥√–¥—∫Õ‘¡¡Ÿ‚π‚°≈∫Ÿ≈‘π IgG
ºªŸâ «É ¬‚√§ LAD ¡°—¡®’”π«π‡¡¥Á‡≈Õ◊¥¢“«∑ Ë’ߟ¡“° °≈¡àÿ¬Õà ¬ (IgG subclass) ·∫ßà ‰¥‡â ªπì 4 °≈¡àÿ¬Õà ¬
ºŸâªÉ«¬∫“ß‚√§¡’‡¡Á¥‡≈◊Õ¥¢“« eosinophil „π‡≈◊Õ¥ (subclass) ‰¥â·°à IgG1 §‘¥‡ªìπ√âÕ¬≈– 70 ´Ë÷ß¡’
∑ ’Ëߟ‡™πà ‚√§ WAS ·≈– hyper-IgE syndrome  ¥— «à π¡“°∑ ’Ë¥ÿ √Õß≈ß¡“§Õ◊ IgG2 √Õâ ¬≈– 20 IgG3
1.1.2 √Ÿª√à“ߢÕ߇¡Á¥‡≈◊Õ¥ ‡™àπ °“√æ∫ √Õâ ¬≈– 7 ·≈– IgG4 √Õâ ¬≈– 3 µ“¡≈”¥∫— ∑ßÈ—π®È’–
ngeiauntrtopihnitlra∫cßà e∫lÕlu°l∂aß÷r‚√g§raCnHulSe5 „π‡¡Á¥‡≈◊Õ¥¢“« µ√«®√–¥∫—Õ¡‘¡‚Ÿπ‚°≈∫≈Ÿπ‘IgG °≈¡àÿ¬Õà ¬ ‡¡Õ◊˺ªâŸ«É ¬
¡’√–¥—∫Õ‘¡¡Ÿ‚π‚°≈∫Ÿ≈‘π IgG ∑’˪°µ‘·µà¡’§«“¡º‘¥
1.1.3 ®”π«π‡°≈Á¥‡≈◊Õ¥ ‡™àπ ºâŸªÉ«¬‚√§ ª°µ‘¢Õß°“√ √â“ß·Õπµ‘∫Õ¥’µàÕ‡™◊ÈÕÀ√◊պ⟪ɫ¬∑Ë’¡’
WAS ®–¡’®”π«π‡°≈Á¥‡≈◊Õ¥∑’˵”Ë·≈–¢π“¥¢Õß °“√¢“¥Õ¡‘¡‚Ÿπ‚°≈∫≈Ÿπ‘™π¥‘ IgA (selective IgA
‡°≈¥Á‡≈Õ◊¥∑‡’Ë≈°Á°«“à ª°µ‘ deficiency)
1.2 °“√µ√«®√–¥∫—Õ¡‘¡‚Ÿπ‚°≈∫≈Ÿπ‘(immu- 2.1.3 °“√«—¥°“√∑”ß“π¢Õ߇¡Á¥‡≈◊Õ¥¢“«
noglobulin) B cell ‚¥¬¥®Ÿ“°°“√ √“â ß·Õπµ∫‘Õ¥’‚¥¬·∫ßà ‰¥‡â ªπì
‡ªìπ°“√µ√«®√–¥—∫Õ‘¡¡Ÿ‚π‚°≈∫Ÿ≈‘π ‰¥â·°à ■ °“√«¥—√–¥∫— isohemagglutinin ‡ªπì °“√
IgG, IgM, IgA ·≈– IgE ∑ß—Èπ§È’“à ª°µ¢‘ÕßÕ¡‘¡‚Ÿπ- µ√«®·Õπµ∫‘Õ¥™’𥑠IgM µÕà À¡‡àŸ≈Õ◊¥ ‚¥¬µ√«®
‚°≈∫≈Ÿπ‘ §Õ◊§“à ∑Ւˬ„àŸπ™«à ß 2 standard deviation „π‡¥°Á∑ÕË’“¬¡ÿ“°°«“à 1 ªï §“à ª°µÕ‘¬“à ßπÕâ ¬ 1:8 ∑ß—È
(SD) µ“¡™«à ßÕ“¬ÿÕ¬“à ߉√°µÁ“¡∂“â √–¥∫—Õ¡‘¡‚Ÿπ- π§’Èπ∑¡Ë’À’¡‡àŸ≈Õ◊¥ A ®–¡’anti-B §π∑¡Ë’À’¡‡Ÿà ≈Õ◊¥ B
‚°≈∫≈Ÿπ‘ πÕâ ¬°«“à 200 ¡°./¥≈. ∂Õ◊«“à ºªŸâ «É ¬π“à ®– ®–¡’anti-A À√Õ◊§π∑¡’ËÀ’¡‡àŸ≈Õ◊¥ O ®–¡∑’ßÈ—anti-A
¡§’«“¡º¥‘ª°µ¢‘Õß‚√§„π°≈¡ÿà ‚√§∑¡’˧’«“¡º¥‘ª°µ‘ ·≈– anti-B10 ·µ®à –„™‰â ¡‰à ¥„â π§π∑¡’ËÀ’¡‡Ÿà ≈Õ◊¥ AB
¢Õ߇¡¥Á‡≈Õ◊¥¢“« B cell7 ´ß÷Ë®–°≈“à «„π√“¬≈–‡Õ¬’¥ ■ °“√«—¥°“√ √â“ß·Õπµ‘∫Õ¥’∑Ë’®”‡æ“–
µÕà ‰ª (specific antibody) „™â°—∫§π∑Ë’‡§¬‰¥â√—∫«—§
1.3 °“√∂“à ¬¿“æ√ß— ∑’√«ßÕ° (chest x-ray) ´π’¡“°Õà π‡™πà °“√«¥—√–¥∫—¢Õß·Õπµ∫‘Õ¥µ’Õà «§—´π’
„π‡¥Á°‡≈Á°À√◊Õ∑“√° “¡“√∂¥ŸµàÕ¡ thymus ‰¥â Diphtheria, Tetanus, Hepatitis B À√Õ◊ Hemo-
„πºâŸªÉ«¬∑’ˇªìπ‚√§§«“¡º‘¥ª°µ‘¢Õ߇¡Á¥‡≈◊Õ¥¢“« philus influenza type B Õ¬“à ߉√°µÁ“¡„πª®í ®∫ÿπ—
T cell ®–¡¢’π“¥µÕà ¡ thymus ∑‡Ë’≈°ÁÀ√Õ◊µ√«®‰¡à  “¡“√∂«¥—°“√ √“â ß·Õπµ∫‘Õ¥’µÕà polysaccharide
æ∫®“°¿“æ√—ß ’Õ¬à“߉√°Áµ“¡„π‡¥Á°‚µ‰¡à “¡“√∂ vaccine ‰¥§â Õ◊ pneumococcal polysaccharide
¥µŸÕà ¡ thymus ®“°¿“æ√ß— ‰’¥â vaccine ´Ë÷ß¡’ª√–‚¬™πå„πºâŸªÉ«¬∑Ë’ ß —¬«à“¡’°“√
2. °“√µ√«®·∫∫‡©æ“–‡®“–®ßµ“¡°≈àÿ¡‚√§ ¢“¥·Õπµ‘∫Õ¥’∑’Ë®”‡æ“– (specific antibody
¿¡Ÿ§‘¡âÿ°π—∫°æ√Õà ߪ∞¡¿¡Ÿ·‘µ≈à –™π¥‘ deficiency)
2.1 °“√µ√«®‡æÕË◊À“‚√§∑¡’˧’«“¡º¥‘ª°µ¢‘Õß 2.2 °“√µ√«®‡æ◊ËÕÀ“‚√§∑Ë’¡’§«“¡∫°æ√àÕß
‡¡¥Á‡≈Õ◊¥¢“« B cell „π°“√ √“â ß·Õπµ∫‘Õ¥’ ¢Õ߇¡¥Á‡≈Õ◊¥¢“« T cell
2.1.1 °“√«—¥√–¥—∫‡¡Á¥‡≈◊Õ¥¢“« B cell 2.2.1 °“√µ√«®®”π«π‡¡¥Á‡≈Õ◊¥¢“« T cell
(CD19, CD20) ‚√§∑¡Ë’®’”π«π‡¡¥Á‡≈Õ◊¥¢“« B cell ‡ªπì °“√«¥—®”π«π‡´≈≈‚å ¥¬°“√¬Õâ ¡ CD marker ∫π
µ”Ë¡“°9 (πÕâ ¬°«“à √Õâ ¬≈– 2) ‰¥·â °‚à √§ agamma- º«‘¢Õ߇¡¥Á‡≈Õ◊¥¢“« T cell ‰¥·â °à CD3, CD4, CD8

‚√§¿¡Ÿ §‘ â¡ÿ °π—∫°æ√Õàߪ∞¡¿Ÿ¡‘Primary Immunodeficiency Disease 149

·≈– CD16/56 (NK cell)  ”À√—∫°≈àÿ¡‚√§∑’Ë¡’ „πÕ¥µ’‡√“„™°â “√µ√«® nitroblue tetrazolium test
®”π«π‡¡¥Á‡≈Õ◊¥¢“« T cell µË”°«“à ª°µ‘§Õ◊ ‚√§∑Ë’ (NBT) ´÷Ëß„™âÀ≈—°°“√‡¥’¬«°—∫ DHR ·µàµâÕß
¡’§«“¡º‘¥ª°µ‘¢Õ߇¡Á¥‡≈◊Õ¥¢“« B ·≈– T cell Õ“»¬—°“√¥°Ÿ“√‡ª≈¬Ë’π ¢’Õ߇¡¥Á‡≈Õ◊¥¢“«neutrophil
‡™πà SCID À√Õ◊ °≈¡àÿÕ“°“√∑¡Ë’¿’¡Ÿ§‘¡âÿ°π—∫°æ√Õà ß ·≈–π—∫®”π«π‡´≈≈åºà“π°≈âÕß®ÿ≈∑√√»πå´Ë÷ߢÈ÷πÕ¬Ÿà
‡™πà WAS ·≈– Digeorge syndrome °∫—§πÕ“à π®ß÷∑”„À¡â §’«“¡§≈“¥‡§≈ÕË◊π‰¥â
2.2.2 °“√µ√«®°“√∑”ß“π¢Õ߇¡¥Á‡≈Õ◊¥¢“« 2.4 °“√µ√«®√–¥∫— complement
T cell „™â„π°“√µ√«®ºâŸªÉ«¬∑’Ë ß —¬«à“¡’°“√¢“¥
■ °“√µ√«®°“√‡æ¡‘Ë®”π«π¢Õ߇¡¥Á‡≈Õ◊¥¢“« complement ‡√“ “¡“√∂µ√«®«—¥ CH50 À√◊Õ
lymphocyte (lymphocyte proliferation) µàÕ AH50 ∑ßÈ—π’ÈCH50 ‡ªπì °“√µ√«®§«“¡ “¡“√∂¢Õß
µ«—°√–µπâÿ„πÀ≈Õ¥∑¥≈Õß ‡™πà phytohemagglu- complement „π classical pathway ∑’Ë∑”„Àâ
tinin (PHA) ´ß÷ˇªπì mitogen ∑‰’Ë¡®à ”‡æ“– “¡“√∂ ‡¡Á¥‡≈◊Õ¥·¥ß·°–∑’Ë¡’·Õπµ‘∫Õ¥’µàÕ‡¡Á¥‡≈◊Õ¥·¥ß
µ√«®‰¥µâ ß—È·µ·à √°‡°¥‘5  ”À√∫—ºªŸâ «É ¬∑‡Ë’§¬¡°’“√µ¥‘ Õ¬àŸ∫πº‘«·µ°‰ª√âÕ¬≈– 50  à«π AH50 ‡ªìπ°“√
‡™È◊ÕÀ√◊Õ‡§¬‰¥â√—∫«—§´’π∫“ßÕ¬à“ß®π§√∫°Á “¡“√∂ «¥— complement „π alternative pathway Õ¬“à ߉√
µ√«®°“√µÕ∫ πÕßµÕà ‡™Õ◊ÈÀ√Õ◊«§—´π’ππÈ—Ê ‰¥â °µÁ“¡°“√µ√«® CH50 À√Õ◊ AH50 ‰¡ à “¡“√∂«¥—
■ °“√µ√«®¥â«¬«‘∏’cutaneous delayed complement ·µà≈–™π‘¥ ´Ë÷ß∂Ⓡ√“µ√«®§—¥°√Õß
type hypersensitivity11 ‡ªπì °“√µ√«®°“√∑”ß“π ·≈â«æ∫«à“ CH50 À√◊Õ AH50 º‘¥ª°µ‘‡√“
¢Õ߇¡¥Á‡≈Õ◊¥¢“« T cell ∑®Ë’”‡æ“–µÕà ‡™ÕÈ◊À√Õ◊«§—´π’ “¡“√∂µ√«®√–¥∫— complement ·µ≈à –™π¥‘µÕà ‰¥â
ππÈ—Ê ∑“ߺ«‘Àπß—´ßË÷‡ªπì °“√µ√«®·∫∫ in vivo test  ”À√∫—°“√µ√«®∑“ßÀÕâ ߪØ∫‘µ—°‘“√∑“ß√–∫∫
µ«—Õ¬“à ß«§—´π’∑‡Ë’√“π”¡“„™∑â ¥ Õ∫∑“ߺ«‘Àπß—‰¥·â °à ¿Ÿ¡‘§ÿâ¡°—π∑Ë’°≈à“«‰ª¢â“ßµâπ‡ªìπ°“√µ√«®∑Ë’∑”‰¥â„π
tuberculin ·≈– tetanus toxoid ‡ªìπµâπ °“√ ª√–‡∑»‰∑¬ Õ¬à“߉√°Áµ“¡‚√§¿Ÿ¡‘§ÿâ¡°—π∫°æ√àÕß
µ√«®π§È’«√∑”„π‡¥°ÁÕ“¬ÿ1 ª¢ï π÷ȉª ª∞¡¿¡Ÿ∫‘“ß‚√§‰¡ à “¡“√∂«π‘®‘©¬—‚¥¬„™°â “√µ√«®µ“¡
2.3 °“√µ√«®‡æÕ◊ËÀ“‚√§„π°≈¡ÿà §«“¡º¥‘ª°µ‘ ∑Ë’°≈à“«¢â“ßµâπ‰¥â ¥—ßπÈ—π‡√“Õ“®µâÕß„™â°“√µ√«®
¢Õ߇¡¥Á‡≈Õ◊¥¢“« phagocyte §«“¡º¥‘ª°µ∑‘“ßæπ—∏°ÿ√√¡¡“™«à ¬„π°“√«π‘®‘©¬—‚√§
°“√µ√«®¥«â ¬«∏‘’dihydrorhodamine assay
(DHR) ‡ªìπ°“√µ√«®°“√∑”ß“π¢Õ߇Õπ‰´¡å °≈ÿà¡‚√§¿¡Ÿ ‘§âÿ¡°—π∫°æ√Õàߪ∞¡¿¡Ÿ ‘
gprhaanguolocmytaetoouxsiddaisseeas‡eæË◊Õ(C«‘πG‘®D©)—¬1‚1√§À≈c°—h°r“o√n§iÕ◊c ‚√§¿Ÿ¡‘§ÿâ¡°—π∫°æ√àÕß∑Ë’¡’§«“¡º‘¥ª°µ‘¢Õ߇¡Á¥
‡≈Õ◊¥¢“« T cell ·≈– B cell
∂“â ‡¡¥Á‡≈Õ◊¥¢“« neutrophil ∂°Ÿ°√–µπÿâ ®– “¡“√∂ Severe combined immunodeficiency
º≈‘µ superoxide À√◊Õ O2 free radical ¡“ (SCID) ‡ªìπ‚√§∑Ë’¡’§«“¡º‘¥ª°µ‘¢Õß°“√æ—≤π“
∑”≈“¬‡™È◊Õ´Ë÷ß “√ superoxide  “¡“√∂‡ª≈Ë’¬π ¢Õ߇¡¥Á‡≈Õ◊¥¢“« T cell ‡ªπì À≈°— ∑ßÈ—π’Èprimary
dihydrorhodamine ‡ªìπ rhodamine ·≈– immunodeficiency treatment consortium ‰¥â
 “¡“√∂«¥—‰¥®â “°‡§√ÕË◊ß flow cytometry °“√µ√«® ‡ πÕ‡°≥±„å π°“√«π‘®‘©¬— SCID ¥ß—πÈ’12, 13
DHR ™à«¬‰¥â∑È—ß°“√«‘π‘®©—¬‚√§·≈– “¡“√∂∫Õ° ■ Typical À√Õ◊ classic SCID §Õ◊ ¡‡’¡¥Á
°“√∂“à ¬∑Õ¥∑“ßæπ—∏°ÿ√√¡ (phenotype) ¢Õß‚√§‰¥â ‡≈◊Õ¥¢“« T cell „π‡≈◊Õ¥πâÕ¬°«à“ 300 ‡´≈≈å/

150 ¬À‘ «“  ÿ¢ «— ¥Ï‘

≈∫.¡¡. √«à ¡°∫—¡’°“√µÕ∫ πÕߢÕß PHA ∑π’ËÕâ ¬ ‡∑¬’∫°∫—°≈¡ÿà §«∫§¡ÿ
°«à“√âÕ¬≈– 10 ‡¡Ë◊Õ‡∑’¬∫°—∫°≈àÿ¡§«∫§ÿ¡ À√◊Õ¡’ SCID ‡ªìπ‚√§∑Ë’¡’À≈“°À≈“¬√Ÿª·∫∫´÷Ëß®–
maternal T cell „π√–∫∫‰À≈‡«¬’π‚≈Àµ‘ ·∫àßµ“¡°≈àÿ¡¬àÕ¬¢Õ߇¡Á¥‡≈◊Õ¥¢“« lymphocyte
■ Partial À√◊Õ leaky SCID ´÷Ëß√«¡∂÷ß (lymphocyte subset) ‚¥¬ SCID ∑ÿ°™π‘¥®–¡’
Omenn syndrome §Õ◊¡‡’¡¥Á‡≈Õ◊¥¢“« T cell ≈¥ ®”π«π‡¡Á¥‡≈◊Õ¥¢“« T cell ∑Ë’µË”¡“°®÷߇√’¬°«à“
≈ß ‚¥¬¥Ÿµ“¡‡°≥±åÕ“¬ÿ¥—ßπÈ’Õ“¬ÿπâÕ¬°«à“ 2 ªï¡’ T-negative (T-) ´ßË÷®–¡º’≈µÕà ‡¡¥Á‡≈Õ◊¥¢“« B cell
‡¡¥Á‡≈Õ◊¥¢“« T cell πÕâ ¬°«“à 1,000 ‡´≈≈/å ≈∫.¡¡. (B+, B-) À√Õ◊‡¡¥Á‡≈Õ◊¥¢“« NK cell (NK+, NK-)
Õ“¬ÿ2-4 ª¡ï ‡’¡¥Á‡≈Õ◊¥¢“« T cell πÕâ ¬°«“à 800 À√Õ◊‰¡¢à π÷ÈÕ¬°àŸ∫—§«“¡º¥‘ª°µ∑‘“ßæπ—∏°ÿ√√¡ ‚¥¬‰¥â
‡´≈≈å/≈∫.¡¡. Õ“¬ÿ¡“°°«à“ 4 ªï¡’‡¡Á¥‡≈◊Õ¥¢“« · ¥ß§«“¡º‘¥ª°µ‘¢Õ߬’π5 ∑’ˇ°Ë’¬«¢âÕß„πµ“√“ß∑’Ë
T cell πâÕ¬°«à“ 600 ‡´≈≈å/≈∫.¡¡. ·≈–¡’°“√ 10.2
µÕ∫ πÕߢÕß PHA ∑Ë’πâÕ¬°«à“√âÕ¬≈– 30 ‡¡◊ËÕ ºªâŸ«É ¬‚√§π¡’È°—¡°’“√µ¥‘‡™ÕÈ◊∑√Ë’πÿ·√ß·≈–√«¥‡√«Á

µ“√“ß∑’Ë 10.2 ™π‘¥¢Õß‚√§ severe combined immunodeficiency (SCID) ·≈–§«“¡º‘¥ª°µ‘∑“ß
æπ—∏°ÿ√√¡¢Õß·µ≈à –™π¥‘ (√«∫√«¡¢Õâ ¡≈Ÿ®“°‡Õ° “√Õ“â ßÕß‘À¡“¬‡≈¢ 5)

‚√§ §«“¡º¥‘ ª°µ¢‘ Õ߬π’
T-B-NK-
ADA
ë Adenosine deaminase (ADA) deficiency AK2
ë Adenylate cyclase (reticular dysgenesis) DCLRE1C
T-B-NK+ NHEJ1
ë Artemis PRKDC
ë Cerunnos LIG4
ë DNA-dependent protein kinase RAG1 and RAG2
ë DNA ligase IV IL2RG
ë RAG1 and RAG2 JAK3
T-B+NK- IL2RA
ë X-linked SCID (æ∫∫Õà ¬∑ Ë’¥ÿ) CD3D, CD3E, CD3Z
ë JAK3 deficiency CORO1A
ë CD25 deficiency PTPRC
T-B+NK+ IL7RA
ë CD3 complex defects
ë Coronin 1 A deficiency
ë CD45 deficiency
ë IL-7 receptor deficiency

‚√§¿¡Ÿ §‘ ¡âÿ °π—∫°æ√Õàߪ∞¡¿Ÿ¡‘Primary Immunodeficiency Disease 151

Õ“¬ÿ∑Ë’· ¥ßÕ“°“√¡—°‡ªìπ°àÕπ 6 ‡¥◊Õ𠇙È◊Õ∑’Ëæ∫ ‰c¥ir‡â √c«Ále¢sπ÷ȉ(¥T·â R°°àE“C√µs√)«1®6 T-cell receptor excision
∫àÕ¬‰¥â·°à °“√µ‘¥‡™◊ÈÕ©«¬‚Õ°“  (opportunistic ´÷Ëß TRECs §◊Õ™‘Èπ à«π
infection) ‡™πà Adenovirus, Candida, Asper- ¢π“¥‡≈Á°¢Õß DNA ∑Ë’∂Ÿ° √â“ߢ÷Èπ„π™à«ß¢Õß°“√
gillosis ·≈–‡™ÕÈ◊ Mycobacterium ‡ªπì µπâ Õ“°“√ æ—≤π“¢Õß T cell „πµàÕ¡ thymus ºâŸªÉ«¬∑Ë’‡ªìπ
· ¥ß·≈–Õ«—¬«–∑’˵‘¥‡™È◊Õ∫àÕ¬ ‰¥â·°à ªÕ¥Õ—°‡ ∫ SCID ®–µ√«® TRECs ‰¡àæ∫À√◊Õ§à“µË”¡“°
∑âÕ߇ ’¬‡√◊ÈÕ√—ß µ‘¥‡™◊ÈÕ√“„π™àÕߪ“° ¡’°“√µ‘¥‡™È◊Õ∑’Ë Õ¬“à ߉√°µÁ“¡‚√§ÕπË◊∑¡Ë’®’”π«π‡¡¥Á‡≈Õ◊¥¢“« T cell
√πÿ·√ß®π∂ß÷·°™à «’µ‘À≈ß—‰¥√â ∫—«§—´π’‡™Õ◊ȇªπì (BCG ∑µ’˔ˡ“° ‡™πà Digeorge syndrome, Trisomy 21
polio) ‡≈’Ȭ߉¡à‚µ (failure to thrive) ¡’¿“«– idiopathic CD4 lymphopenia °¡Á’TRECs µ”Ë
graft-versus-host disease (GvHD) ´Ë÷߇°‘¥ ‰¥‡â ™πà °π—16
®“°°“√∑’Ë¡’‡¡Á¥‡≈◊Õ¥¢“« T cell ¢Õß·¡àºà“π¡“
∑“ß√°14 ∑”„À‡â °¥‘ºπ◊Ë·≈–°“√≈Õ°¢Õߺ«‘Àπß—·≈– °“√√°—…“‚√§ severe combined immunode-
¡’µ—∫Õ—°‡ ∫‰¥â  ”À√—∫ Omenn syndrome ‡ªìπ ficiency
autosomal recessive SCID ™π‘¥Àπ÷Ëß ´Ë÷ß®–¡’ ºŸâªÉ«¬∑’ˇªìπ‚√§π’È∂◊Õ‡ªìπ¿“«–©ÿ°‡©‘π∑Ë’µâÕß
≈—°…≥–摇»…§◊Õ¡’§«“¡º‘¥ª°µ‘¢Õߺ‘«Àπ—ß∑Ë’‡√’¬° √’∫„Àâ°“√√—°…“‡πË◊Õß®“°ºâŸªÉ«¬®–‡ ’¬™’«‘µ®“°°“√
«“à erythroderma ·≈–¡¿’“«– eosinophilia √«à ¡ µ¥‘‡™Õ◊È∑√Ë’πÿ·√߉¥‡â √«Á°“√√°—…“ª√–°Õ∫¥«â ¬
¥«â ¬ 1. °“√ª≈Ÿ°∂à“¬‡´≈≈åµâ𰔇𑥇¡Á¥‡≈◊Õ¥
°“√µ√«®∑“ßÀâÕߪؑ∫—µ‘°“√®–æ∫®”π«π (hematopoietic stem cell transplantation)
‡¡¥Á‡≈Õ◊¥¢“« lymphocyte µ”Ë¡“° CD marker ¢Õß ‡ªπì °“√√°—…“∑¥’Ë∑’ ’Ë¥ÿ¢Õß‚√§ SCID Õµ—√“°“√√Õ¥
‡¡¥Á‡≈Õ◊¥¢“« T cell µ”Ë  «à π CD marker ¢Õß ™«’µ‘À≈ß—°“√∑”°“√ª≈°Ÿ∂“à ¬‡´≈≈µå πâ °”‡π¥‘‡¡¥Á‡≈Õ◊¥
‡¡¥Á‡≈Õ◊¥¢“« B cell (CD19, CD20) À√Õ◊ CD ·∫∫ haploidentical hematopoietic stem cell
marker ¢Õ߇¡¥Á‡≈Õ◊¥¢“« NK cell (CD16/CD56) StrCanIDsp1l7antation  Ÿß∂÷ß√âÕ¬≈– 78 „π X-linked
®–µ”ËÀ√Õ◊ª°µ°‘‰Á¥â ‰¡æà ∫‡ß“¢ÕßµÕà ¡ thymus ®“°
¿“æ∂à“¬√—ß ’∑√«ßÕ° °“√·∫àßµ—«¢Õ߇¡Á¥‡≈◊Õ¥¢“« 2. °“√„À¬â “ intravenous immunoglobulin
T cell (T cell proliferation) µ”Ë°«“à ª°µ1‘5 ¡°— (IVIg) ∑°ÿ 3-4  ª—¥“Àå
¡’¿“«– hypogammaglobulinemia √à«¡¥â«¬ 3. °“√„À¬â “ antibiotic prophylaxis ºªŸâ «É ¬
‡πË◊Õß®“°‡¡◊ËÕ®”π«π‡¡Á¥‡≈◊Õ¥¢“« T cell µ”Ë¡“° SCID ¡—°µ‘¥‡™◊ÈÕ Pneumocystis jiroveci
®÷߉¡à “¡“√∂‰ª°√–µÿâπ‡¡Á¥‡≈◊Õ¥¢“« B cell „Àâ pneumonia (PCP) ‰¥∫â Õà ¬ ‡æ√“–©–ππÈ—®ß÷·π–π”
√â“ßÕ‘¡¡Ÿ‚π‚°≈∫Ÿ≈‘π‰¥â Õ¬à“߉√°Áµ“¡„π‡¥Á°∑’ËÕ“¬ÿ °“√„À⬓ trimethoprim/ sulfamethoxazole
πÕâ ¬°«“à 6 ‡¥Õ◊π√–¥∫—Õ¡‘¡‚Ÿπ‚°≈∫≈Ÿπ‘ IgG ¬ß—‰¡à (5 ¡°./°°./«—π¢Õ߬“ trimethoprim 3 «—πµàÕ
µ”Ë°«à“ª°µ‘‰¥â‡π◊ËÕß®“°Õ‘¡¡Ÿ‚π‚°≈∫Ÿ≈‘π IgG ¢Õß  ª—¥“À)å ‡æÕË◊ªÕÑ ß°π—°“√µ¥‘‡™Õ◊ȥߗ°≈“à «5
·¡∑à ºË’“à π¡“∑“ß√°¬ß—‡À≈Õ◊Õ¬Ÿà 4. À≈°’‡≈¬’Ëß°“√„À«â §—´π’‡™Õ◊ȇªπì
„πª√–‡∑» À√∞—Õ‡¡√°‘“ ¡°’“√µ√«®§¥—°√Õß 5. °“√√—°…“°“√µ‘¥‡™◊Èե⫬¬“ªØ‘™’«π–·≈–
„π‡¥Á°·√°‡°‘¥‡æË◊ÕÀ“¿“«–®”π«π‡¡Á¥‡≈◊Õ¥¢“« ·¬°ºªŸâ «É ¬Õ¬„àŸπÀÕâ ߪ≈Õ¥‡™Õ◊È
T cell ∑µË’”Ë¡“° ‡æÕË◊ª√–‚¬™π„å π°“√«π‘®‘©¬— SCID 6. ∂â“®”‡ªìπµâÕß„Àâ‡≈◊Õ¥À√◊Õº≈‘µ¿—≥±å®“°

152 ¬À‘ «“  ¢ÿ «— ¥Ï‘

‡≈◊Õ¥§«√¡’°“√©“¬√—ß ’°àÕπ„Àâ ‡æ◊ËÕªÑÕß°—π°“√‡°‘¥ ‚¥¬‡™È◊Õ°àÕ‚√§∑’Ëæ∫∫àÕ¬ §◊Õ Giardia lamblia,
¿“«– GvHD Salmonella ·≈– Campylobacter20 ≈—°…≥–
°“√欓°√≥å‚√§  ”§≠—∑æË’∫®“°°“√µ√«®√“à ß°“¬„πºªâŸ«É ¬agammag-

ºŸâªÉ«¬ SCID ∑Ë’‰¡à‰¥â√—∫°“√√—°…“¡—°®–‡ ’¬ lubulinemia §◊Õ µ√«®‰¡àæ∫µàÕ¡π”ȇÀ≈◊ÕßÀ√◊Õ
™’«‘µÕ¬à“ß√«¥‡√Á«°àÕπÕ“¬ÿ1 ªï °“√√—°…“¥â«¬°“√ ∑Õπ´‘≈´÷Ëß·µ°µà“ß®“°‚√§Õ◊Ëπ∑’ËÕ¬àŸ„π°≈àÿ¡‚√§∑’Ë¡’
„À⬓ªØ‘™’«π– ¬“ªÑÕß°—π°“√µ‘¥‡™◊ÈÕ À√◊Õ°“√„Àâ §«“¡º¥‘ª°µ¢‘Õ߇¡¥Á‡≈Õ◊¥¢“« B cell „π°“√ √“â ß
IVIg ™«à ¬„Àºâ ªŸâ «É ¬Õµ—√“°“√√Õ¥™«’µ‘∑¬Ë’“«π“π¢πÈ÷ ·Õπµ∫‘Õ¥’ºªŸâ «É ¬¡¿’“«–‡¡¥Á‡≈Õ◊¥¢“«µË” neutro-
penia √«à ¡¥«â ¬
‚√§∑Ë’¡’§«“¡º‘¥ª°µ‘¢Õ߇¡Á¥‡≈◊Õ¥¢“« B cell 2. Common variable immunodeficiency

„π°“√ √“âß·Õπµ‘∫Õ¥’ (CVID) ‡°≥±å„π°“√«‘π‘®©—¬ §◊Õ ºâŸªÉ«¬∑’Ë¡’Õ“¬ÿ

‡ªìπ°≈àÿ¡‚√§∑’Ëæ∫∫àÕ¬∑’Ë ÿ¥∑Ë—«‚≈°√«¡∂÷ß„π ¡“°°«à“ 4 ªï∑Ë’¡’√–¥—∫Õ‘¡¡Ÿ‚π‚°≈∫Ÿ≈‘π IgG ·≈–
ª√–‡∑»‰∑¬ ‚√§°≈àÿ¡π’ȇ°‘¥®“°§«“¡º‘¥ª°µ‘¢Õß IgA„π‡≈Õ◊¥µË”°«“à ª°µ‘·≈–Õ“®¡√’–¥∫—Õ¡‘¡‚Ÿπ‚°≈∫≈Ÿπ‘
°“√æ≤—π“¢Õ߇¡¥Á‡≈Õ◊¥¢“« B cell „π√–¬–µ“à ßÊ IgM µ”Ë√à«¡¥â«¬ √à«¡°—∫¡’°“√ √â“ß·Õπµ‘∫Õ¥’∑Ë’
´ßË÷ª√–°Õ∫¥«â ¬‚√§µ“à ßÊ ¥ß—πÈ’ ®”‡æ“–µÕà «§—´π’∑‡’˧¬‰¥Õâ ¬„àŸπ√–¥∫—µË”°«“à ª°µ·‘≈–
1. Agammaglobulinemia ‚√§π’È®–¡’ µâÕßµ—¥ “‡ÀµÿÕ◊Ëπ∑Ë’∑”„À⇰‘¥ hypogammag-
ª√‘¡“≥Õ‘¡¡Ÿ‚π‚°≈∫Ÿ≈‘π∑ÿ°™π‘¥µË”°«à“ª°µ‘‚¥¬¡’ lobulinemia ÕÕ°‰ª·≈«â 5 Õ“¬∑ÿ‡’Ë√¡‘Ë· ¥ßÕ“°“√¡’
°“√∂à“¬∑Õ¥∑“ßæ—π∏ÿ°√√¡·∫∫ X-linked ·≈– À≈“°À≈“¬ ·µ à «à π„À≠¡à °—æ∫∑Ë’2 ™«à ßÕ“¬ÿ§Õ◊ Õ“¬ÿ
autosomal recessive ´Ë÷ß„π∑Ë’πË’®–¢Õ°≈à“«‡©æ“– 15 ª·ï ≈– 40 ªï Õ“°“√· ¥ß‡√Õ◊Ëß°“√µ¥‘‡™Õ◊È¢ÕߺªŸâ «É ¬
X-linked agammaglobulinemia (XLA) ‡πÕ◊Ëß®“° CVID ®–æ∫∫àÕ¬∑’Ë ÿ¥·≈–‡À¡◊Õπ°—∫„πºâŸªÉ«¬
æty∫ro‰¥si√â nÕâ e¬k≈i–n8a5se¬(π’B∑T‡Ë’ªKπì ) 1“8‡À‚ªµ√¢ÿµÕπ’ß‚B√§T§KÕ◊ Brutonûs agammaglobulinemia ·µàÕ“°“√· ¥ß∑’ˇæ‘Ë¡¡“
¡∫’∑∫“∑ „πºªâŸ«É ¬ CVID ‰¥·â °à °≈¡àÿÕ“°“√ noninfection ‡™πà
 ”§≠—µÕà °“√‡®√≠‘‡µ∫‘‚µ·≈–°“√æ≤—π“¢Õ߇¡¥Á‡≈Õ◊¥ autoimmune, granulomatous disease À√◊Õ
¢“« B cell ºªŸâ «É ¬¡“¥«â ¬Õ“°“√µ¥‘‡™ÕÈ◊·∫§∑‡’√¬’„π enteropathy ‚¥¬ noninfectious chronic
√–∫∫∑“߇¥π‘À“¬„®´È”Ê„π™«à ßÕ“¬ÿ2ª·ï √°∫Õà ¬∑ ’Ë¥ÿ pulmonary disease æ∫‰¥√â Õâ ¬≈– 3021, 22 bron-
‡™È◊Õ∑’Ëæ∫∫àÕ¬ §◊Õ Streptococcus pneumoniae chiectasis √Õß≈ß¡“§◊Õ enteropathy ´Ë÷ß¡—°æ∫
·≈– Haemophilus influenza Õ¬à“߉√°Áµ“¡°“√ Õ“°“√∑âÕ߇ ’¬‡√◊ÈÕ√—ß·≈– malabsorption Õ“°“√
µ¥‘‡™Õ◊È∑∂’ËÕ◊«“à §Õà π¢“â ß®”‡æ“–‡®“–®ßµÕà ‚√§ agam- ∑“ß autoimmune æ∫‰¥â√âÕ¬≈– 2021, 22 ´Ë÷ß
maglobulinemia §◊Õ Enterovirus ´Ë÷ß∑”„À⇰‘¥ Õ“°“√∑æË’∫∫Õà ¬∑ Ë’¥ÿ§Õ◊ autoimmune cytopenia
chronic enteroviral meningoencephalitis À√Õ◊ (immune thrombocytopenia ·≈– autoimmune
°“√‡°‘¥ pyoderma gangrenosum ®“°‡™È◊Õ hemolytic anemia) ÀπßË÷„π “¡¢ÕߺªŸâ «É ¬ CVID
Helicobacter·≈–¡√’“¬ß“π°“√µ¥‘‡™ÕÈ◊ Pseudomonas, ¡—°¡’lymphoproliferative disorder √à«¡¥â«¬
Campylobacter jejuni „π‡≈Õ◊¥¢ÕߺªŸâ «É ¬ agam- ‡™πà ¡¡’“â ¡‚µÀ√Õ◊¡µ’Õà ¡πÈ”‡À≈Õ◊ß‚µ ´ßË÷æ∫«“à  ¡—æπ—∏å
maglobulinemia19 ‡™πà °π— √Õâ ¬≈– 25 ¢ÕߺªâŸ«É ¬ °—∫°“√‡°‘¥ B-cell malignancies ·≈–¡’°“√
¡Õ’“°“√· ¥ß¢Õß√–∫∫∑“߇¥π‘Õ“À“√ ‡™πà ∑Õâ ߇ ¬’ 欓°√≥‚å √§∑‰Ë’¡¥à ’´ßË÷§«“¡™°ÿ¢Õß°“√‡°¥‘ B-cell

‚√§¿¡Ÿ ‘§ÿ¡â°—π∫°æ√àÕߪ∞¡¿Ÿ¡‘Primary Immunodeficiency Disease 153

lymphoma ( à«π„À≠à‡ªìπ non-Hodgkin bulinemia §«“¡™ÿ°¢Õß‚√§π’ȧàÕπ¢â“ßπâÕ¬„π§π
lymphoma) ¡ª’√–¡“≥√Õâ ¬≈– 1.8 ∂ß÷8.222 ‡Õ‡™¬’·µæà ∫∫Õà ¬„π°≈¡ÿà §πº«‘¢“« ºªâŸ«É ¬ «à π„À≠à
3. Hyper IgM syndrome ‡ªìπ‚√§∑’Ë¡’ ‰¡·à  ¥ßÕ“°“√ °≈¡àÿ∑·’Ë ¥ßÕ“°“√¡°—¡“¥«â ¬µ¥‘‡™ÕÈ◊
§«“¡º¥‘ª°µ¢‘Õß°“√‡ª≈¬’Ëπ°“√ √“â ßÕ¡‘¡‚Ÿπ‚°≈∫≈Ÿπ‘ ∑“ß√–∫∫∑“߇¥π‘À“¬„®·≈–√–∫∫∑“߇¥π‘Õ“À“√ Õ“®
IgM ‰ª‡ªπì Õ¡‘¡‚Ÿπ‚°≈∫≈Ÿπ‘µ«—Õπ◊ˉ¡‰à ¥â (Ig class ¡’‚√§¿Ÿ¡‘·æâ autoimmune À√◊Õ ¡–‡√Áß√à«¡¥â«¬24
switching) ∑”„Àâ√–¥—∫Õ‘¡¡Ÿ‚π‚°≈∫Ÿ≈‘π IgM „π ºâŸªÉ«¬ selective IgA deficiency ¡—°¡’§«“¡
‡≈Õ◊¥ª°µÀ‘√Õ◊ ßŸ·µ√à –¥∫—Õ¡‘¡‚Ÿπ‚°≈∫≈Ÿπ‘IgA, IgG ‡ Ë’¬ßµàÕ°“√‡°‘¥ anaphylactic reaction À≈—߉¥â
·≈– IgE µË” ‚¥¬‚√§ hyper IgM syndrome ¡’ √∫—‡≈Õ◊¥À√Õ◊ «à πª√–°Õ∫¢Õ߇≈Õ◊¥∑¡’Ë’IgA ªπÕ¬Ÿà
À≈“¬™π‘¥¢È÷πÕ¬Ÿà°—∫§«“¡º‘¥ª°µ‘∑“ßæ—π∏ÿ°√√¡´÷Ëß ‡πË◊Õß®“°ºŸâªÉ«¬∫“ß√“¬ “¡“√∂ √â“ß·Õπµ‘∫Õ¥’µàÕ
 “¡“√∂· ¥ß§«“¡º¥‘ª°µ‰‘¥µâ ß—È·µ¡à §’«“¡º¥‘ª°µ‘ IgA ºªŸâ «É ¬∫“ß√“¬¡°’“√‡ª≈¬’Ëπ·ª≈ߢÕß‚√§‰ª‡ªπì
‡©æ“–°“√ √“â ß·Õπµ∫‘Õ¥Õ’¬“à ߇¥¬’«®π‰ª∂ß÷¡§’«“¡ CVID „πÕ𓧵25
º¥‘ª°µ·‘∫∫ combined immunodeficiency ´ßË÷ 5. Transient hypogammaglobulinemia
„π∑Ë’πÈ’®–¢Õ°≈à“«∂÷ß™π‘¥∑’Ëæ∫∫àÕ¬§◊Õ X-linked of infancy (THI)  “¡“√∂æ∫‰¥â„π∑“√°Õ“¬ÿ
hyper IgM syndrome (CD40 ligand deficiency) µßÈ—·µà 6 ‡¥Õ◊π¢πÈ÷‰ª ‡πÕË◊ß®“°‡ªπì ™«à ߇«≈“∑ÕË’¡‘¡-Ÿ
‡°‘¥®“°§«“¡º‘¥ª°µ‘¢Õ߬’π∑Ë’§«∫§ÿ¡°“√ √â“ß ‚π‚°≈∫≈Ÿπ‘IgG ∑‰Ë’¥√â ∫—®“°¡“√¥“ (passive maternal
ligand ¢Õß CD40 ´ß÷ËÕ¬∫Ÿà πº«‘¢Õ߇¡¥Á‡≈Õ◊¥¢“« T IgG)πÕâ ¬≈ß·≈–∑“√°‡Õß°¬Áß—¡°’“√ √“â ßÕ¡‘¡‚Ÿπ‚°≈-
cell ∑”„Àâ CD40 ∫πº«‘‡¡¥Á‡≈Õ◊¥¢“« B cell ‰¡à ∫≈Ÿπ‘IgG ¢Õßµπ‡Õ߉¥πâ Õâ ¬Õ¬Ÿà ®ß÷∑”„À¡â °’“√µ¥‘‡™ÕÈ◊
 “¡“√∂®∫—°∫— CD40 ligand ∫πº«‘‡¡¥Á‡≈Õ◊¥¢“« T ‰¥âßà“¬ Õ“°“√· ¥ß∑Ë’æ∫∫àÕ¬∑Ë’ ÿ¥ §◊Õ°“√µ‘¥‡™È◊Õ
cell ®ß÷‰¡ à “¡“√∂‡ª≈¬’Ëπ®“°Õ¡‘¡‚Ÿπ‚°≈∫≈Ÿπ‘IgM ‰ª ∑“߇¥π‘À“¬„® «à π∫𠇙πà À™ŸπÈ—°≈“ßÕ°—‡ ∫ ‰´π —
‡ªπì Õ¡‘¡‚Ÿπ‚°≈∫≈Ÿπ‘µ«—Õπ◊ˉ¥â ·≈–§«“¡º¥‘ª°µ¢‘Õß Õ°—‡ ∫ ºªâŸ«É ¬ THI ¡°—æ∫°“√µ¥‘‡™Õ◊È∑√Ë’πÿ·√ß ‡™πà
√–∫∫¿¡Ÿ§‘¡ÿâ °π—®–‡ªπì ·∫∫ combined immunode- µ‘¥‡™È◊Õ„π°√–· ‡≈◊Õ¥ ‡¬◊ËÕÀâÿ¡ ¡ÕßÕ—°‡ ∫‰¥âπâÕ¬
ficiency ºŸâªÉ«¬¡—°¡“¥â«¬Õ“°“√µ‘¥‡™◊ÈÕ∑“ß√–∫∫ ºâŸªÉ«¬‚√§π’È¡’°“√欓°√≥å‚√§∑Ë’¥’√âÕ¬≈– 98 √–¥—∫
À“¬„®´È”Ê ‚¥¬Õ“°“√ªÕ¥Õ—°‡ ∫æ∫∫àÕ¬∑Ë’ ÿ¥ Õ¡‘¡‚Ÿπ‚°≈∫≈Ÿπ‘°≈∫—¡“ §Ÿà “à ª°µ∑‘ÕË’“¬ÿ5 ª2ï 6 ·µ„à π
 “‡Àµ ÿ«à π„À≠‡à °¥‘®“°°“√µ¥‘‡™ÕÈ◊ PCP, sclerosing ∫“ß°“√»°÷…“ºªâŸ«É ¬¡°’“√À“¬¢Õß ‚√§∑‡Ë’√«Á°«“à ππÈ—
cholangitis ®“°°“√µ‘¥‡™◊ÈÕ cryptosporidium23 6. IgG subclass deficiency «π‘®‘©¬—‡¡ÕË◊¡’
ºªŸâ «É ¬¡¿’“«– neutropenia √«à ¡¥«â ¬‰¥∂â ß÷√Õâ ¬≈– 60 ºªŸâ «É ¬¡√’–¥∫—Õ¡‘¡‚Ÿπ‚°≈∫≈Ÿπ‘ IgG subclass ™π¥‘
Õ“°“√· ¥ßÕπ◊ËÊ ∑‡’ˮՉ¥∫â “â ß ‰¥·â °à autoimmune „¥™π¥‘ÀπßË÷µË”°«“à 2 SD ¢Õߧ“à ‡©≈¬Ë’µ“¡Õ“¬ÿ·µà
(AIHA, thrombocytopenia) ·≈–°“√‡°¥‘¡–‡√ßÁ∑’Ë µâÕß¡’√–¥—∫Õ‘¡¡Ÿ‚π‚°≈∫Ÿ≈‘π IgG IgM ·≈– IgA
biliary tract ª°µ‘™π¥‘¢Õߧ«“¡º¥‘ª°µ∑‘æË’∫∫Õà ¬∑ Ë’¥ÿ§Õ◊ IgG2
4. Selective IgA deficiency ºªŸâ «É ¬‚√§π’È À√Õ◊ IgG3 subclass deficiency ºªâŸ«É ¬¡°—¡“¥«â ¬
µÕâ ß¡Õ’“¬¡ÿ“°°«“à 4 ª·ï ≈–¡√’–¥∫—Õ¡‘¡‚Ÿπ‚°≈∫≈Ÿπ‘ Õ“°“√µ¥‘‡™Õ◊È∑“ß√–∫∫À“¬„® ‡™πà À™ŸπÈ—°≈“ßÕ°—‡ ∫
IgA „π‡≈Õ◊¥πÕâ ¬°«“à 7 ¡°./¥≈.‚¥¬∑√’Ë–¥∫—Õ¡‘¡Ÿ ‰´π —Õ°—‡ ∫ À≈Õ¥≈¡Õ°—‡ ∫ ®“°°“√»°÷…“ºªŸâ «É ¬
‚π‚°≈∫≈Ÿπ‘ IgG ·≈– IgM Õ¬„àŸπ‡°≥±ªå °µ‘·≈– „πª√–‡∑»‰∑¬®”π«π 55 §π Õ“°“√· ¥ß∑æ’Ë∫∫Õà ¬
‰¡à¡’ “‡ÀµÿÕ◊Ëπ∑Ë’∑”„À⇰‘¥ hypogammaglo- ∑ ’Ë¥ÿ §Õ◊ ‰´π —Õ°—‡ ∫ ‚¥¬æ∫¡“°∂ß÷√Õâ ¬≈– 83.627

154 ¬À‘ «“  ¢ÿ « —¥‘Ï

Õ¬à“߉√°Áµ“¡ºâŸªÉ«¬‚√§π’È¡’°“√欓°√≥å‚√§∑Ë’¥’ ‚√§∑µ’ËÕâ ß殑“√≥“ „À¬â “ IVIg ‡ªπì °“√√°—…“
√Õâ ¬≈–86¡Õ’“°“√¥¢’π÷È∂ß÷·¡«â “à √–¥∫—Õ¡‘¡‚Ÿπ‚°≈∫≈Ÿπ‘ À≈°—·≈–µÕà ‡πÕË◊ß §Õ◊ agammaglobulinemia, CVID
IgG subclass ®–‰¡‡à ª≈¬’Ëπ·ª≈ß28 ·≈– hyper IgM syndrome ‚¥¬æ¬“¬“¡√—°…“
7. Specific antibody deficiency ¡—° √–¥∫—Õ¡‘¡‚Ÿπ‚°≈∫≈Ÿπ‘IgGtrough„ÀÕâ ¬„àŸπ‡°≥±¥å ß—π’È
«‘π‘®©—¬„π‡¥Á°∑’ËÕ“¬ÿ2 ªï¢÷Èπ‰ª∑Ë’¡’Õ“°“√µ‘¥‡™◊ÈÕ„π - °“√ªÕÑ ß°π—°“√µ¥‘‡™Õ◊È·∫§∑‡’√¬’‡©¬’∫æ≈π—
√–∫∫∑“߇¥‘πÀ“¬„®´È”Ê ·≈–µ√«®√–¥—∫¿Ÿ¡‘§âÿ¡°—π „À√â –¥∫— IgG trough Õ¬„àŸπ‡°≥±å 400-600 ¡°./¥≈.
æ∫«à“√–¥—∫Õ‘¡¡Ÿ‚π‚°≈∫Ÿ≈‘π ·≈–Õ‘¡¡Ÿ‚π‚°≈∫Ÿ≈‘π - „π√“¬∑Ë’¬—ß¡’‰´π— Õ—°‡ ∫¬◊¥‡¬È◊Õ À√◊Õ¡’
IgG subclass Õ¬Ÿà„π‡°≥±åª°µ‘·µà§«“¡ “¡“√∂ bronchiectasis „À√â –¥∫— IgG trough Õ¬„Ÿà π‡°≥±å
„π°“√µÕ∫ πÕßµÕà ‡™ÕÈ◊ polysaccharide º¥‘ª°µ‘ 800 ¡°./¥≈.
°“√«‘π‘®©—¬‚√§∑”‰¥â‚¥¬°“√©’¥«—§´’π 23 valent - „π√“¬∑¡Ë’’chronic enteroviral menin-
polysaccharide pneumococcal vaccine ·≈– goencephalitis „À√â –¥∫— IgG trough Õ¬Ÿà„π‡°≥±å
µ√«®√–¥—∫Õ‘¡¡Ÿ‚π‚°≈∫Ÿ≈‘π IgG µàÕ‡™◊ÈÕ„π·µà≈– 1,000 ¡°./¥≈.
serotype ∑ßÈ—°Õà π·≈–À≈ß—‰¥√â ∫—«§—´π’ 4-6  ª—¥“Àå  ”À√∫—„π‚√§∑¡Ë’§’«“¡º¥‘ª°µ¢‘Õ߇¡¥Á‡≈Õ◊¥
‚¥¬∂“â √–¥∫—Õ¡‘¡‚Ÿπ‚°≈∫≈Ÿπ‘ IgG ¡§’“à ¡“°°«“à À√Õ◊ ¢“« B cell ∑‰Ë’¡√à πÿ·√ß ‰¥·â °à THI IgG subclass
‡∑“à °∫— 1.3 ¡§°./¡≈.·≈– ¥— «à π¢ÕßÕ¡‘¡‚Ÿπ‚°≈- deficiency, specific antibody deficiency °“√
∫≈Ÿπ‘ IgG À≈ß—‰¥√â ∫—«§—´π’‡æ¡‘ˠߟ¢πÈ÷Õ¬“à ßπÕâ ¬ 4 ‡∑“à √—°…“À≈—°‰¡à„™à°“√„À⬓ IVIg ‚¥¬®–æ‘®“√≥“„Àâ
¢Õß°Õà π‰¥√â ∫—«§—´π’ ∂Õ◊«“à ¡°’“√µÕ∫ πÕß Õ¬“à ߉√ ¬“ IVIg ‡¡◊ËÕ¬—ß¡’°“√µ‘¥‡™È◊Õ´”È∑Ë’„Àâ antibiotic
°µÁ“¡√–¥∫—¢Õß°“√µÕ∫ πÕߢπÈ÷Õ¬°Ÿà ∫—Õ“¬¢ÿÕߺªŸâ «É ¬ prophylaxis ·≈«â
∂“â Õ“¬ÿ2-5 ªï µÕâ ß¡°’“√µÕ∫ πÕßÕ¬“à ßπÕâ ¬√Õâ ¬≈– 3. °“√„Àâ antibiotic prophylaxis29
50 ¢Õß®”π«π serotype ∑Ë’µ√«® ·µà∂â“Õ“¬ÿ¡“° ë X-linked hyper-IgM syndrome „À¬â “
°«“à À√Õ◊‡∑“à °∫— 6 ªï µÕâ ß¡°’“√µÕ∫ πÕßÕ¬“à ßπÕâ ¬ trimethoprim/sulfamethoxazole 5 ¡°./°°.
√âÕ¬≈– 70 ¢Õß®”π«π serotype ∑È—ßÀ¡¥5 °“√ Õ¬àŸ„π‡°≥±åµàÕ«—π¢Õ߬“ trimethoprim 3 «—πµàÕ
¥”‡π‘π‚√§¢ÕߺŸâªÉ«¬‚√§π’È¡’2 ·∫∫ §◊Õ ¡’√–¥—∫  ª—¥“À‡å æÕË◊ªÕÑ ß°π—°“√µ¥‘‡™Õ◊È PCP
°“√µÕ∫ πÕߢÕß¿Ÿ¡‘§âÿ¡°—π°≈—∫¡“‡ªìπª°µ‘∑Ë’Õ“¬ÿ ë X-linked agammaglobulinemia À√Õ◊
2-5 ªï  à«π°≈ÿà¡∑’ˇªìπ‚√§∂“«√°“√¥”‡π‘π‚√§¡—° CVID ∑Ë’¡’°“√µ‘¥™◊ÈÕÀ≈—ß®“°„Àâ IVIg ¡“°°«à“
®–‰¡√à πÿ·√ß ∂“â ºªŸâ «É ¬‰¥√â ∫—°“√√°—…“∑∂’Ë°ŸµÕâ ß ‡À¡“– 3 §√—Èß À√◊Õ¬—ß¡’°“√µ‘¥‡™◊ÈÕ∑’Ë√ÿπ·√ß æ‘®“√≥“„À⬓
 ¡ ∑ß—ÈπºÈ’‡âŸ¢¬’π‰¥√â «∫√«¡°“√µ√«®√–¥∫—¿¡Ÿ§‘¡ÿâ °π— azithromycin 5 ¡°./°°./«—π 3 «—πµàÕ —ª¥“Àå
„π°“√«π‘®‘©¬—‚√§∑¡’˧’«“¡º¥‘ª°µ¢‘Õ߇¡¥Á‡≈Õ◊¥¢“« À√Õ◊ 10 ¡°./°°. Õ“∑µ‘¬≈å –§√ßÈ—
B cell ‚¥¬≈–‡Õ¬’¥µ“¡µ“√“ß∑Ë’10.3 ë THI À√◊Õ Selective IgA deficiency
殑“√≥“„À¬â “ azithromycin 5 ¡°./°°./«π— 3 «π—
°“√√—°…“‚√§∑Ë’¡’§«“¡º‘¥ª°µ‘¢Õ߇¡Á¥‡≈◊Õ¥¢“« B µÕà  ª—¥“Àå À√Õ◊ 10 ¡°./°°. Õ“∑µ‘¬≈å –§√ßÈ—À√Õ◊„Àâ
cell amoxicillin 20 ¡°./°°.«π—≈–§√ß—È
1. °“√√°—…“°“√µ¥‘‡™Õ◊È¥«â ¬¬“ªØ™‘«’π– 4. À≈’°‡≈Ë’¬ß°“√„Àâ«—§´’π‡™È◊Õ‡ªìπ„π X-
2. °“√„À¬â “ IVIg ∑°ÿ 3-4  ª—¥“Àå linked agammaglobulinemia ·≈– CVID

‚√§¿Ÿ¡‘§â¡ÿ °—π∫°æ√Õàߪ∞¡¿¡Ÿ ‘Primary Immunodeficiency Disease 155

5. ºªŸâ «É ¬ THI, selective IgA deficiency, ∂◊Õ«à“‡ªìπ¥à“π·√° (innate immunity) „π°“√
specific antibody deficiency ·π–π”°“√„Àâ °”®¥—‡™Õ◊È ºªŸâ «É ¬‚√§π¡’È°—¡“¥«â ¬°“√µ¥‘‡™Õ◊È∑º’Ë«‘Àπß—
«—§´’π‡æ◊ËÕªÑÕß°—π°“√µ‘¥‡™È◊Õ√–∫∫∑“߇¥‘πÀ“¬„® ´”ÈÊ ¡’ΩïÀπÕߢÕßÕ«—¬«–¿“¬„π µàÕ¡π”ȇÀ≈◊Õß
‰¥·â °à «§—´π’ªÕÑ ß°π—‚√§‰¢Àâ «¥—„À≠à ·≈– conjugated Õ°—‡ ∫ ‡ÀßÕ◊°Õ°—‡ ∫·≈–·º≈À“¬™“â
pneumococcal vaccine
§«“¡º¥‘ª°µ¢‘Õ߇¡¥Á‡≈Õ◊¥¢“« phagocyte
6. °“√ª≈Ÿ°∂à“¬‡´≈≈åµâ𰔇𑥇¡Á¥‡≈◊Õ¥  “¡“√∂·∫ßà §«“¡º¥‘ª°µ‰‘¥â 4 °≈¡àÿ ¥ß—π’È
‡ªπì °“√√°—…“∑ Ë’“¡“√∂∑”„ÀÀâ “¬¢“¥„π X-linked
hyper-IgM syndrome 1. §«“¡º¥‘ª°µ¢‘Õß°“√æ≤—π“¢Õ߇¡¥Á‡≈Õ◊¥
¢“« neutrophil (neutrophil differentiation)
‚√§∑¡Ë’ §’«“¡º¥‘ ª°µ¢‘Õ߇¡¥Á ‡≈Õ◊¥¢“« phago-
cyte ∑È—ß®”π«πÀ√◊ÕÀπ“â∑Ë’ ë Congenital neutropenia ºªâŸ«É ¬‚√§πÈ’
®–¡’®”π«π‡¡Á¥‡≈◊Õ¥¢“« neutrophil „π‡≈◊Õ¥∑’Ë
‡¡¥Á‡≈Õ◊¥¢“« phagocyte À¡“¬∂ß÷‡¡¥Á‡≈Õ◊¥ ≈¥≈ß §”«à“ neutropenia À¡“¬∂÷ß absolute
¢“« neutrophil, monocyte ·≈– macrophage ‚¥¬ neutrophil count (ANC) πÕâ ¬°«“à 1,500 ‡´≈≈/å
≈∫.¡¡.„π‡¥Á°∑’ËÕ“¬ÿ¡“°°«à“ 1 ªï ·≈–πâÕ¬°«à“

µ“√“ß∑Ë’ 10.3 º≈°“√µ√«®√–¥—∫¿Ÿ¡‘§ÿâ¡°—π„π°“√«‘π‘®©—¬‚√§∑Ë’¡’§«“¡º‘¥ª°µ‘¢Õ߇¡Á¥‡≈◊Õ¥¢“« B cell
(√«∫√«¡¢Õâ ¡≈Ÿ®“°‡Õ° “√Õ“â ßÕß‘À¡“¬‡≈¢ 5)

IgG IgA IgM IgG °“√ ®”π«π °“√«π‘ ®‘©¬—‚√§
subclass µÕ∫ πÕß ‡¡¥Á ‡≈Õ◊¥¢“«
‚¥¬°“√ √“âß B cell
·Õπµ∫‘ Õ¥’

µ”Ë¡“° µ”Ë¡“° µ”Ë¡“° µ”Ë¡“° Agammaglobulinemia
µ”Ë µË” ª°µ‘ (πÕâ ¬°«“à √Õâ ¬
≈– 2)
À√Õ◊µ”Ë µ”Ë ª°µÀ‘√Õ◊µ”Ë CVID
µË” µË” ª°µ‘
µ”Ë ª°µ‘ Hyper IgM syndrome
À√Õ◊ ßŸ
µË” ª°µ‘ ª°µ‘ ª°µ‘ ª°µÀ‘√Õ◊µË” THI
ª°µÀ‘√Õ◊µ”Ë ‡≈°ÁπÕâ ¬ Selective IgA deficiency
À√Õ◊µ”Ë À√Õ◊µ”Ë µ”Ë ª°µ‘ IgG subclass deficiency
ª°µ‘ µ”Ë ª°µ‘ ª°µ‘ µ”Ë ª°µ‘ Specific antibody deficiency
ª°µ‘ ª°µ‘ ª°µ‘ µ”Ë ª°µ‘
ª°µ‘ ª°µ‘ ª°µ‘ ª°µ‘

156 ¬À‘ «“  ¢ÿ « —¥‘Ï

2,000 ‡´≈≈/å ≈∫.¡¡. „π‡¥°Á 1 ¢«∫ª·ï √°30  ”À√∫— ‡ªìπ à«πª√–°Õ∫ ºâŸªÉ«¬¡—°¡’°“√µ‘¥‡™È◊յȗ߷µàÕ“¬ÿ
classification ¢Õß congenital neutropenia ¡¥’ß—π’È πÕâ ¬·≈–√πÿ·√ß ¡ª’√–«µ— ‘–¥Õ◊À≈¥ÿ™“â (¡“°°«“à 30
mild neutropenia §Õ◊¡’ANC 1,000-1,500‡´≈≈/å «—π) √à«¡°—∫¡’ª√–«—µ‘ –¥◊ÕÕ—°‡ ∫ ¡’°“√µ‘¥‡™◊ÈÕ∑Ë’
≈∫.¡¡. moderate neutropenia §Õ◊¡’ANC 500- ‡Àß◊Õ°·≈–øíπ ·º≈À“¬¬“° ‡™◊ÈÕ∑’Ëæ∫∫àÕ¬ ‰¥â·°à
1,000‡´≈≈å/≈∫.¡¡. severe neutropenia §◊Õ¡’ Staphyloccus aureus ·≈– gram negative
ANC πÕâ ¬°«“à 500 ‡´≈≈/å ≈∫.¡¡. ºªŸâ «É ¬ severe bacteria ºâŸªÉ«¬®–¡’‡¡Á¥‡≈◊Õ¥¢“«„π‡≈◊Õ¥ Ÿß¡“°
congenital neutropenia (SCN) ¡°—¡“¥«â ¬Õ“°“√ ‚¥¬¡√’“¬ß“π«“à ANC ¢π÷Ƞߟ‰¥∂â ß÷100,000 ‡´≈≈/å
severe bacterial infection „π™«à ß 1 ¢«∫ª·ï √°¢Õß ≈∫.¡¡.31
™«’µ‘ ¡°’“√µ¥‘‡™Õ◊È∑ºË’«‘Àπß—°∫—„π™Õà ߪ“° ‡™ÕÈ◊∑æ’Ë∫ 3. ¡§’«“¡º¥‘ª°µ¢‘Õß°“√¶“à ‡™ÕÈ◊¿“¬„π‡´≈≈å
∫Õà ¬ ‰¥·â °à Staphyloccus, Pseudomonas,  ”À√∫— (defect of respiratory burst)
Deep-seated fungal infections (Aspergillus, ‚¥¬ª°µ‡‘¡¥Á‡≈Õ◊¥¢“« phagocyte ®–¶“à ‡™Õ◊È
Candida) ¡°—æ∫‡©æ“–„π°≈¡àÿ∑¡’Ë’neutropenia ¡“ ‚√§‰¥â 2 «∏‘’§Õ◊ „™â lysosomal enzyme ∑”≈“¬‡™Õ◊È
‡ªπì √–¬–‡«≈“π“π „πª®í ®∫ÿπ—‡√“§πâ æ∫§«“¡º¥‘ª°µ‘ ·≈– Õ“»¬—phagocyte oxidase  √“â ß oxygen free
¢Õ߬π’À≈“¬¬π’∑∑Ë’”„À‡â °¥‘‚√§ SCN ‡™πà ELANE, radical ¡“∑”≈“¬‡™È◊Õ chronic granulomatous
GFI1, WAS, HAX1 (HS1-associated protein disease (CGD) ‡ªìπ‚√§∑’ˇ°‘¥®“°§«“¡º‘¥ª°µ‘
X1 gene)5 ´ßË÷∑”„À‡â °¥‘‚√§ Kostmann syndrome ¢Õ߇Õπ‰´¡å phagocyte oxidase (NADPH
‡æ√“–©–πÈ—π‡¡Ë◊Õ‡√“æ∫ºŸâªÉ«¬∑Ë’¡’neutropenia ‡√“ oxidase) ∑”„À‰â ¡ à “¡“√∂ √“â ß oxygen free radical
§«√¡°’“√µ√«® ANC ´”È ‡æ◊ËÕ„™â·¬°«à“ºŸªâ É«¬‡ªπì ¡“∑”≈“¬‡™Õ◊ȉ¥â §«“¡™°ÿ¢Õß‚√§ CGD „πª√–‡∑»
cyclic À√Õ◊ chronic neutropenia  À√—∞Õ‡¡√‘°“ª√–¡“≥ 1:200,00032 ¡’°“√∂à“¬
2. §«“¡º‘¥ª°µ‘¢Õß°“√‡§≈◊ËÕπ∑Ë’¢Õ߇¡Á¥ ∑Õ¥∑“ßæ—π∏ÿ°√√¡ 2 ·∫∫ §◊Õ X-linked ·≈–
‡≈Õ◊¥¢“« neutrophil autosomal recessive ´Ë÷ß X-linked æ∫∫àÕ¬
ë Leukocyte adhesion defect (LAD) ∑’Ë ÿ¥§‘¥‡ªìπ√âÕ¬≈– 70 ‡°‘¥®“°§«“¡º‘¥ª°µ‘¢Õß
‡¡ÕË◊¡°’“√Õ°—‡ ∫À√Õ◊µ¥‘‡™ÕÈ◊„π√“à ß°“¬ ‡¡¥Á‡≈Õ◊¥¢“« ¬π’ CYBB ´ß÷˧«∫§¡ÿ°“√ √“â ß gp91 phox Õ“°“√
„πÀ≈Õ¥‡≈◊Õ¥®–‡§≈◊ËÕπ∑’ˉª¬—ß∫√‘‡«≥∑Ë’¡’°“√ · ¥ß¢Õß X-linked CGD §àÕπ¢â“ß√ÿπ·√ß·≈–
Õ—°‡ ∫´Ë÷ß°“√‡§≈Ë◊Õπ∑’˵âÕßÕ“»—¬°“√‡°“–µ‘¥°—𠇪πì µß—È·µÕà “¬πÿÕâ ¬ Õ“°“√∑æ’Ë∫∫Õà ¬∑ ’Ë¥ÿ §Õ◊ ªÕ¥
√–À«“à ߇¡¥Á‡≈Õ◊¥¢“«·≈–À≈Õ¥‡≈Õ◊¥º“à π adhesion Õ°—‡ ∫ (√Õâ ¬≈– 79) √Õß≈ß¡“§Õ◊ ΩÀï πÕß (√Õâ ¬≈–
molecule ‡¡Ë◊Õ¡’§«“¡º‘¥ª°µ‘¢Õß adhesion 68) ·≈–µÕà ¡πÈ”‡À≈Õ◊ßÕ°—‡ ∫ (√Õâ ¬≈– 53)33 ‡™Õ◊È
molecule ®–∑”„À⇡Á¥‡≈◊Õ¥¢“«‡§≈◊ËÕπ∑’ˉª¬—ß ·∫§∑‡’√¬’∑°’ËÕà ‚√§ §Õ◊‡™Õ◊È∑ ’Ë√“â ß enzyme catalase
µ”·Àπàß∑Ë’¡’°“√Õ—°‡ ∫À√◊Õµ‘¥‡™È◊Õ‰¡à‰¥â ∑”„À⇰‘¥ ‰¥·â °à Staphylococcus aureus, Salmonella spp.,
‚√§∑‡Ë’√¬’°«“à LAD ´ßË÷µ«—‚√§¡∑’ßÈ—À¡¥ 3 ™π¥‘ ∑Ë’ Klebsiella spp., Escherichia coli, Serratia
æ∫∫Õà ¬∑ Ë’¥ÿ§Õ◊ LAD type 1 ¡°’“√∂“à ¬∑Õ¥∑“ß marcescens, Nocardia spp., and Burkholderia
æπ—∏°ÿ√√¡·∫∫ autosomal recessive LAD type spp. ‡™ÕÈ◊√“∑µË’¥‘‰¥∫â Õà ¬ §Õ◊ Aspergillus fumigatus,
1 ¡’§«“¡º‘¥ª°µ‘¢Õß integrin beta-2 ∑”„Àâ¡’ Candida albicans ºªŸâ «É ¬∫“ß√“¬æ∫ granuloma
§«“¡º¥‘ª°µ¢‘Õß adhesion molecule ∑¡’Ë’CD18 µ“¡Õ«—¬«–µà“ßÊ ·≈–‡ªì𠓇Àµÿ¢Õß°“√Õÿ¥µ—π„π

‚√§¿Ÿ¡§‘ÿâ¡°π—∫°æ√Õàߪ∞¡¿Ÿ¡‘Primary Immunodeficiency Disease 157

∑“߇¥π‘Õ“À“√·≈–∑“߇¥π‘ª í  “«– √Õâ ¬≈– 90 µÕ∫ πÕßµÕà °“√„Àâ G-CSF
4. Mendelian susceptibility to mycobac- 5. À≈’°‡≈’ˬ߰“√„Àâ«—§´’π∑Ë’‡ªìπ·∫§∑’‡√’¬

terial disease (MSMD) ‡™ÕÈ◊‡ªπì „πºªâŸ«É ¬ CGD, LAD, MSMD
‡ªπì §«“¡º¥‘ª°µ¢‘Õß¿¡Ÿ§‘¡âÿ°π—∑‡’Ë°¬’Ë«¢Õâ ß°∫—
°≈¡àÿ Õ“°“√∑’Ë¡¿’ Ÿ¡‘§¡ÿâ°—π∫°æ√Õàß
cytokine IL-12, IL-23, interferon-gamma ‚√§¿¡Ÿ§‘¡ÿâ °π—∫°æ√Õà ß„π°≈¡àÿπ‡’Ȫπì °≈¡àÿÕ“°“√
(IFN-γ) ·≈–¬π’ STAT1 ∑”„Àºâ ªâŸ«É ¬¡°’“√µ¥‘‡™Õ◊È
Mycobacterium tuberculosis ·∫∫√ÿπ·√ß ·≈– ∑ª’Ë√–°Õ∫¥«â ¬Õ“°“√µ“à ßÊ∑∂Ë’°Ÿπ¬‘“¡‰«Õâ ¬“à ß™¥—‡®π
µ‘¥‡™◊ÈÕ non tuberculous mycobacterium ‰¥â ´Ë÷ߪ√–°Õ∫‰ª¥â«¬À≈“¬‚√§ ·µà®–¢Õ¬°µ—«Õ¬à“ß
‡™àπ°—𠇙◊ÈÕÕË◊π∑Ë’æ∫ ‰¥â·°à Salmonella spp., ‡©æ“–‚√§∑‡’Ë®Õ∫Õà ¬ ¥ß—π’È
Herpes virus ‡ªπì µπâ
1. Wiskott-Aldrich syndrome (WAS) ¡’
°“√√°—…“‚√§§«“¡º¥‘ª°µ¢‘Õ߇¡¥Á‡≈Õ◊¥¢“« °“√∂“à ¬∑Õ¥∑“ßæπ—∏°ÿ√√¡·∫∫ X-linked ‚¥¬µ«—
phagocyte ‚√§‡°‘¥®“°°“√°≈“¬æ—π∏åÿ¢Õ߬’π WAS  ”À√—∫
§«“¡ ”§≠—¢Õ߬π’ WAS §Õ◊  √“â ß WAS ‚ª√µπ’
1. °“√√°—…“°“√µ¥‘‡™ÕÈ◊¥«â ¬¬“ªØ™‘«’π– ´Ë÷߇ªìπ à«πª√–°Õ∫¢Õ߇´≈≈凡Á¥‡≈◊Õ¥ ‰¡à«à“®–
2. °“√ª≈Ÿ°∂à“¬‡´≈≈åµâ𰔇𑥇¡Á¥‡≈◊Õ¥ ‡ªìπ‡°≈Á¥‡≈◊Õ¥ ‡´≈≈凡Á¥‡≈◊Õ¥¢“« lymphocyte,
‡ªπì °“√√°—…“∑ ’Ë“¡“√∂∑”„ÀÀâ “¬¢“¥„π‚√§ severe neutrophil, monocyte ·≈– macrophage ·≈–
congenital neutropenia, CGD ·≈– LAD type ¡∫’∑∫“∑ ”§≠—„π°“√§«∫§¡ÿ actin polymeriza-
1,35 tion ´ß÷ˇªπì µ«— ßà  ≠—≠“≥¢Õ߇´≈≈¿å ¡Ÿ§‘¡ÿâ °π—‡æ√“–
3. °“√„À¬â “ antibiotic prophylaxis5 ©–π—Èπ∂â“¡’§«“¡º‘¥ª°µ‘¢Õß WAS ‚ª√µ’π®–
ë ¬“ trimethoprim/sulfamethoxazole 5 ∑”„À‡â °¥‘§«“¡º¥‘ª°µ‰‘¥Àâ ≈“¬‡´≈≈å Õ¬“à ߉√°µÁ“¡
¡°./°°./«—π¢Õ߬“ trimethoprim ‚¥¬„Àâ∑ÿ° Õ“°“√· ¥ß¢Õß‚√§·∫à߇ªìπ 3 ·∫∫¢÷ÈπÕ¬àŸ°—∫°“√
«π—‡æÕ◊Ë≈¥Õµ—√“°“√‡°¥‘°“√µ¥‘‡™ÕÈ◊√πÿ·√ß °≈“¬æπ—∏¢åÿÕ߬π’·≈–°“√· ¥ßÕÕ°¢Õß‚ª√µπ’
ë ¬“ itraconazole 100 ¡°.µÕà «π—„π‡¥°Á
∑Ë’π”ÈÀπ—°‰¡à‡°‘π 50 °°. À√◊Õ„Àâ 200 ¡°.„π‡¥Á° ë X-linked thrombocytopenia (XLT)
∑Ë’π”ÈÀπ—°‡°‘π 50 °°. ‡æË◊Õ≈¥Õ—µ√“°“√µ‘¥‡™◊ÈÕ ¡’‡æ’¬ß®”π«π‡°≈Á¥‡≈◊Õ¥µË”·≈–‡°≈Á¥‡≈◊Õ¥¢π“¥
Aspergillus ‡≈°ÁÕ¬“à ߇¥¬’«
4. °“√„™¬â “Õπ◊ËÊ5, 34
ë ¬“ IFN-γ ©’¥‡¢â“„µâº‘«Àπ—ß 3 §√—ÈßµàÕ ë X-linked neutropenia (XLN) ¡’
 ª—¥“À‡å æÕ◊Ë™«à ¬°√–µπâÿ°“√∑”ß“π¢Õ߇¡¥Á‡≈Õ◊¥¢“« ‡æ¬’ß®”π«π‡¡¥Á‡≈Õ◊¥¢“« neutrophil µË”
phagocyte À√Õ◊°“√„Àâ granulocyte transfusion
„π‚√§ CGD ë Classic Wiskott-Aldrich syndrome
ë °“√„Àâ granulocyte transfusion „πºªâŸ«É ¬ (classic WAS) ºªâŸ«É ¬®–¡≈’°—…≥–‡©æ“– 3 Õ¬“à ß
LAD type 1 ∑Ë’¡’°“√µ‘¥‡™È◊Õ∑Ë’√ÿπ·√ß·≈–‰¡àµÕ∫ §Õ◊ ¡‡’°≈¥Á‡≈Õ◊¥µ”˺π◊˺«‘Àπß—Õ°—‡ ∫·≈–µ¥‘‡™ÕÈ◊∫Õà ¬
 πÕßµÕà °“√„À¬â “ªØ™‘«’π–
ë ºªâŸ«É ¬ severe congenital neutropenia „πª®í ®∫ÿ𗉥¡â §’π∑” scoring system ‡æÕË◊
¬¥π’≈Ÿ°—W…≥A–S∑3“5ßµ§“≈¡π‘√°‘“∑¬≈ ’Ë–¡—‡Õ欒π—¥∏„°å π∫—µ°“√““√ß°∑≈’Ë“1¬0æ.4π—∏¢åÿÕß

Õ“°“√∑Ë’¡“‡ªìπÕ—π¥—∫·√°À√◊Õ‡ªìπ‰¥âµÈ—ß·µà

158 ¬‘À«“  ÿ¢ «— ¥Ï‘

·√°‡°¥‘¢ÕߺªâŸ«É ¬ classic WAS §Õ◊ Õ“°“√‡≈Õ◊¥ æ∫‰¥µâ ß—È·µà 6 ‡¥Õ◊π·√°¢Õß™«’µ‘‡πÕ◊Ëß®“°ºªâŸ«É ¬‰¡à
ÕÕ°ß“à ¬∑‡’Ë°¥‘®“°‡°≈¥Á‡≈Õ◊¥µ”Ë·≈–¡‡’°≈¥Á‡≈Õ◊¥¢π“¥  “¡“√∂ √“â ß¿¡Ÿ§‘¡ÿâ °π—µÕà polysaccharide antigen
‡≈°Á´ß÷Ë‚¥¬ª°µ¢‘𓥇°≈¥Á‡≈Õ◊¥®–Õ¬∑àŸË’7.5-10.5 fL ‰¥â‚¥¬ºŸâªÉ«¬ WAS ¡’§«“¡º‘¥ª°µ‘¢Õß√–∫∫
´÷Ë߇√“ “¡“√∂¥Ÿ¢π“¥¢Õ߇°≈Á¥‡≈◊Õ¥®“°§à“ mean ¿¡Ÿ§‘¡âÿ°π—‰¥∑â ßÈ— humoral ·≈– cellular mediated
platelet volume (MPV) „π CBC µÕà ¡“ºªŸâ «É ¬ º≈µ√«®∑“ßÀÕâ ߪØ∫‘µ—°‘“√∑“ß¿¡Ÿ§‘¡âÿ°π—¢ÕߺªŸâ «É ¬
®–‡√‘Ë¡¡’Õ“°“√¢Õߺ◊Ëπº‘«Àπ—ßÕ—°‡ ∫µ“¡¡“ ‚√§ÀŸ WAS ¡§’«“¡º¥‘ª°µ‘¥ß—π3’È5
™—Èπ°≈“ßÕ—°‡ ∫‡ªìπ‚√§µ‘¥‡™È◊Õ∑’Ëæ∫∫àÕ¬∑Ë’ ÿ¥‚¥¬

µ“√“ß∑’Ë10.4 Scoring system ‡æÕ◊Ë¥≈Ÿ°—…≥–Õ“°“√∑ ’Ë¡—æπ—∏°å ∫—°“√°≈“¬æπ—∏¢åÿÕ߬π’ WAS (√«∫√«¡
¢Õâ ¡≈Ÿ®“°‡Õ° “√Õ“â ßÕß‘À¡“¬‡≈¢ 35)

§–·ππ XLN iXLT XLT Classic WAS
0 <1 1 2 3 45

¿“«–‡°≈¥Á‡≈Õ◊¥µË” - -/+ + + + ++
‡°≈¥Á‡≈Õ◊¥¡¢’𓥇≈°Á - ++ + + ++
ºπ◊˺«‘Àπß—Õ°—‡ ∫ - - - (+) + ++ -/(+)/+/++
¿¡Ÿ§‘¡ÿâ °π—µË” -/(+) - -/(+) (+) + + (+)/+
°“√µ¥‘‡™ÕÈ◊ -/(+) - - (+) + +/++ -/(+)/+/++
‚√§ autoimmune À√Õ◊ - -- - - -+
¡–‡√ßÁ + -- - - --
‚√§ congenital -/+ - - - - --
neutropenia
‚√§ myelodysplasia

-/(+) ‰¡¡à À’√Õ◊¡π’Õâ ¬
-/+ ‡°≈¥Á‡≈Õ◊¥µ”ˇªπì §√ßÈ—§√“«À√Õ◊Õ“®®–¡’myelodysplasia
(+) ºπ◊˺«‘Àπß—Õ°—‡ ∫∑‰Ë’¡√à πÿ·√ß À√Õ◊°“√µ¥‘‡™Õ◊È∑‰Ë’¡√à πÿ·√ß·≈–‡ªπì ‰¡∫à Õà ¬
+ ¿“«–‡°≈Á¥‡≈◊Õ¥µ”Ë ºË◊πº‘«Àπ—ßÕ—°‡ ∫∑Ë’‡√◊ÈÕ√—ß·µà¬—ßµÕ∫ πÕßµàÕ°“√√—°…“ ¡’°“√µ‘¥‡™◊ÈÕ´”ÈÊ ∑Ë’µâÕ߉¥â
√∫—¬“ªØ™‘«’π–À√Õ◊¬“ IVIg ∫Õà ¬Ê
++ ºπË◊º«‘Àπß—Õ°—‡ ∫∑√’Ë°—…“¬“° °“√µ¥‘‡™Õ◊È∑√’Ëπÿ·√ß·°™à «’µ‘
iXLT = intermittent X-linked thrombocytopenia, XLN=X-linked neutropenia, XLT=X-linked
thrombocytopenia, WAS=Wiskott-Aldrich syndrome

‚√§¿Ÿ¡§‘ ¡âÿ °π—∫°æ√Õàߪ∞¡¿¡Ÿ ‘Primary Immunodeficiency Disease 159

ë Õ¡‘¡‚Ÿπ‚°≈∫≈Ÿπ‘ æ∫ IgG ·≈– IgM ¡’ °√≥’∑’Ë¡’‡≈◊Õ¥ÕÕ°√ÿπ·√ß ‰¥â·°à ‡≈◊Õ¥ÕÕ°„π ¡Õß
§“à ª°µÀ‘√Õ◊≈¥≈ß  «à π IgA ¡§’“à ª°µÀ‘√Õ◊ ßŸ·µà IgE  à«πª√–°Õ∫¢Õ߇≈◊Õ¥∑’Ë„ÀâºâŸªÉ«¬µâÕ߉¥â√—∫°“√©“¬
¡°—¡§’“à  ßŸ°«“à ª°µ‘ · ß·≈–‰¡¡à ‡’™ÕÈ◊ CMV
ë °“√µÕ∫ πÕßµàÕ polysaccharide 7. °“√µ¥—¡“â ¡ (splenectomy) Õ“®æ®‘“√≥“
antigen ‡ ¬’‰ª æ∫‰¥¡â “°°«“à √Õâ ¬≈– 50 ¢ÕߺªŸâ «É ¬ „πºâŸªÉ«¬ XLT ∑Ë’¡’‡≈◊Õ¥ÕÕ°∫àÕ¬·≈–‡°≈Á¥‡≈◊Õ¥
WAS µË”¡“° Õ¬à“߉√°Áµ“¡æ∫º≈‡ ’¬§◊Õ‡æË‘¡Õ—µ√“°“√
ë ®”π«π‡¡Á¥‡≈◊Õ¥¢“« T-cell ≈¥≈ß ¡—° µ¥‘‡™ÕÈ◊„π‡≈Õ◊¥37
®–æ∫‡¡Õ◊˺ªŸâ «É ¬Õ“¬¡ÿ“°¢πÈ÷ 2. Defect in thymus development
ë °“√µÕ∫ πÕߢÕß lymphocyte prolif- Digeorge anomaly/chromosome 22q11.2
eration µàÕµ—«°√–µâÿπ≈¥≈ß·≈–‰¡à¡’°“√µÕ∫ πÕß deletion ‚√§π‡È’°¥‘®“°°“√ deletion ¢Õß‚§√‚¡‚´¡
µÕà °“√∑¥ Õ∫ cutaneous delayed type hyper- ∑’˵”·Àπàß 22q11.2 ºâŸªÉ«¬¡—°æ∫§«“¡º‘¥ª°µ‘∑Ë’
sensitivity ‡ªπì °≈¡ÿà Õ“°“√ 3 Õ¬“à ß ‰¥·â °à‚√§À«—„®æ°‘“√·µ°à ”‡π¥‘
Õ“°“√· ¥ß¢Õߥâ“π autoimmune æ∫‰¥â ¿“«–·§≈‡´¬’¡„π‡≈Õ◊¥µ”Ë®“° hypoparathyroidism
√Õâ ¬≈– 22-72 ´ß÷ËÕ“°“√· ¥ß∑æË’∫∫Õà ¬∑ Ë’¥ÿ‰¥·â °à ·≈–ª√‘¡“≥ T cell „π‡≈◊Õ¥µË”®“°µàÕ¡‰∑¡— ¡’
hemolytic anemia, vasculitis, arthritis À√◊Õ ¢π“¥‡≈Á° Õ¬à“߉√°Áµ“¡ºâŸªÉ«¬∑ÿ°§π‰¡à®”‡ªìπµâÕß
inflammatory bowel disease  ”À√—∫‚√§¡–‡√Áß · ¥ß∑—Èß 3 Õ“°“√·µà§«√®–¡’Õ¬à“ßπâÕ¬ 2 Õ“°“√
æ∫∫Õà ¬„πºªŸâ «É ¬«¬—√πÿà ·≈–º„âŸÀ≠à™π¥‘∑æË’∫¡“°∑ Ë’¥ÿ ‡æÕË◊°“√«π‘®‘©¬—‚√§ Õ“°“√· ¥ßÕπË◊Ê ∑æË’∫∫Õà ¬‡™πà
§Õ◊ ¡–‡√ßÁµÕà ¡π”ȇÀ≈Õ◊ß ·≈–ºªŸâ «É ¬ WAS ¡°—æ∫‚√§ °π—‰¥·â °à „∫Àπ“â ¡≈’°—…≥–‡©æ“– §Õ◊ hypertelorism,
lymphoproliferative ∑’ˇ°‘¥®“°‡™◊ÈÕ EBV ‚¥¬ saddle nose, short philtrum, À‡Ÿ°“–µË”·≈–¡√’ªŸ
gold standard ¢Õß°“√«π‘®‘©¬—‚√§ §Õ◊ µ√«®À“°“√ √à“ߺ‘¥ª°µ‘ªí≠À“‚√§À—«„®·µà°”‡π‘¥∑’Ëæ∫∫àÕ¬§◊Õ
°≈“¬æ°π—“∏√¢åÿ√Õ°—ß…¬“π’‚√W§ WASA5S36 ª√–°Õ∫¥«â ¬ tetralogy of Fallot, ventricular septal defect
·≈– interrupted aortic arch38 ≈—°…≥–∑“ß
1. °“√ª≈°Ÿ∂“à ¬‡´≈≈µå πâ °”‡π¥‘‡¡¥Á‡≈Õ◊¥‡ªπì ¿¡Ÿ§‘¡ÿâ °π—∑ºË’¥‘ª°µ∑‘æ’Ë∫¡“°∑ ’Ë¥ÿ§Õ◊ ¡®’”π«πTcell
°“√√°—…“∑∑’Ë”„ÀÀâ “¬¢“¥„πºªâŸ«É ¬ WAS ·µ à ”À√∫— µË”‡≈Á°πâÕ¬∂÷ߪ“π°≈“ß38 °“√∑”ß“π¢Õß T cell
„πºªâŸ«É ¬ XLT ¬ß—‡ªπì ∑∂’Ë°‡∂¬’ß°π—‡πÕË◊ß®“°ºªŸâ «É ¬ ¡—°®–ª°µ‘¡’ºŸâªÉ«¬ à«ππâÕ¬∑’Ë¡’IgA À√◊Õ IgM
°≈¡ÿà π¡’ÈÕ’µ—√“°“√√Õ¥™«’µ‘√–¬–¬“«∑¥Ë’’ µË” Õ¬“à ߉√°µÁ“¡®”π«π T cell ∑µË’”Ë¢ÕߺªâŸ«É ¬®–
2. °“√√°—…“°“√µ¥‘‡™ÕÈ◊¥«â ¬¬“ªØ™‘«’π– ¡ª’√¡‘“≥‡æ¡‘Ë¢πÈ÷µ“¡Õ“¬∑ÿ¡’Ë“°¢π÷ȇæ√“–©–ππ—ȺªâŸ«É ¬
3. °“√„À¬â “ IVIg ∑°ÿ 3-4  ª—¥“Àå °≈¡àÿπ¡È’‚’Õ°“ À“¬®“°¿“«–¿¡Ÿ§‘¡ÿâ °π—µË”‰¥5â ·µ∂à “â
4. °“√„Àâ antibiotic prophylaxis ¥â«¬ ºŸâªÉ«¬¡’¿“«–¿Ÿ¡‘§ÿâ¡°—π∑Ë’µ”Ë¡“°‡πË◊Õß®“°‰¡à¡’µàÕ¡
trimethoprim/sulfamethoxazole 5 ¡°./°°.µÕà ‰∑¡ — ºªŸâ «É ¬°≈¡àÿπ‡’È√“‡√¬’°«“à complete Digeorge
«—π¢Õ߬“ trimethoprim 3 «—πµàÕ —ª¥“Àå‡æË◊Õ anomaly ´ßË÷¡Õ’“°“√· ¥ß ∑“ß¿¡Ÿ§‘¡ÿâ °π—·∫∫‡¥¬’«
ªÕÑ ß°π—°“√µ¥‘‡™Õ◊È PCP °∫—∑æË’∫„πºªŸâ «É ¬ SCID
5. À≈°’‡≈¬’Ëß°“√„À«â §—´π’‡™Õ◊È™π¥‘‡ªπì °“√√°—…“ Digeorge anomaly ª√–°Õ∫¥«â ¬
6. §«√À≈’°‡≈Ë’¬ß°“√„À⇰≈Á¥‡≈◊Õ¥¬°‡«âπ„π 1. °“√ª≈°Ÿ∂“à ¬‰∑¡ — (thymus transplan-

160 ¬‘À«“  ÿ¢ « —¥‘Ï

tation) ‡ªìπ definite treatment „πºŸâªÉ«¬ cellular º≈‡ªπì ª°µ‘
complete Digeorge anomaly ë Autosomal recessive hyper-IgE
2. √—°…“Õ“°“√√à«¡ÕË◊πÊ ‰¥â·°à ‚√§À—«„® syndrome ‡°¥‘®“°°“√°≈“¬æπ—∏¢ÿå Õ߬π’ DOCK 8
¿“«–·§≈‡´¬’¡„π‡≈Õ◊¥µË” ·≈– TYK 240 ºŸâªÉ«¬∑Ë’¡’°“√°≈“¬æ—π∏åÿ¢Õ߬’π
3. °“√„Àâ«—§´’π „πªí®®ÿ∫—π¬—߉¡à¡’·π«∑“ß DOCK 8 ®–‰¡¡à ª’≠í À“‡√Õ◊Ëß°√–¥°Ÿ øπí ·≈–‰¡‡à °¥‘
∑Ë’™—¥‡®π¢Õß°“√„Àâ«—§´’π‡™◊ÈÕ‡ªìπ„πºŸâªÉ«¬‚√§π’È pneumatocele ·µàºŸâªÉ«¬®–¡’Õ“°“√· ¥ß¢Õß‚√§
º‡Ÿâ ™¬’Ë«™“≠∫“ß «à π„™·â π«∑“ߪØ∫‘µ—‡‘¥¬’«°∫—°“√„Àâ ¿¡Ÿ·‘æ∑â √Ë’πÿ·√ß ¡‡’¡¥Á‡≈Õ◊¥¢“« eosinophil „π‡≈Õ◊¥ ßŸ
«—§´’π‡™◊ÈÕ‡ªìπ„πºâŸªÉ«¬ HIV ´Ë÷ߥŸµ“¡ª√‘¡“≥¢Õß ·≈–¡’°“√µ‘¥‡™◊ÈÕ‰«√— ∑Ë’º‘«Àπ—ßÕ¬à“ß√ÿπ·√ß ‡™àπ
tCoDxo4i+d3T9cell ·≈– T cell proliferation µÕà tetanus disseminated molluscum contagiosum, herpes
simplex ·≈– human papilloma virus ‡¡Õ◊ËÕ“¬ÿ
4. °“√„Àâ antibiotic prophylaxis ¥â«¬ ¡“°¢π÷Èæ∫‚Õ°“ ‡°¥‘¡–‡√ßÁ·≈– vasculitis ¢ÕßÀ≈Õ¥
trimethoprim/sulfamethoxazole 5 ¡°./°°./ ‡≈Õ◊¥ ¡Õ߉¥ â ߟ¢π÷È ºªâŸ«É ¬∑¡’Ë°’“√°≈“¬æπ—∏¢åÿÕ߬π’
«—π¢Õ߬“ trimethoprim 3 «—πµàÕ —ª¥“Àå‡æË◊Õ TYK2‡ªπì §«“¡º¥‘ª°µ∑‘æË’∫πÕâ ¬∑ Ë’¥ÿ‡¡ÕË◊‡∑¬’∫°∫—
ªÕÑ ß°π—°“√µ¥‘‡™Õ◊È PCP 2 ™π¥‘·√° Õ“°“√· ¥ß¢ÕߺªŸâ «É ¬„π°≈¡àÿπ®’È–¡°’“√
5. °“√„Àâ‡≈◊Õ¥À√◊Õ à«πª√–°Õ∫¢Õ߇≈◊Õ¥ µ¥‘‡™Õ◊È∑ºË’«‘Àπß— Ω„ï πªÕ¥ ·≈–¡√’“¬ß“π°“√µ¥‘‡™Õ◊È
µÕâ ߉¥√â ∫—°“√©“¬· ß·≈–‰¡¡à ‡’™ÕÈ◊ CMV nontuberculous mycobacterium40
3. Hyper-IgE syndrome ºªŸâ «É ¬¡§’«“¡º¥‘ °“√√°—…“‚√§ hyper-IgE syndrome
ª°µ‘¢Õß°≈àÿ¡Õ“°“√ ‰¥â·°à ¡’°“√µ‘¥‡™È◊Õ∑’˺‘«Àπ—ß ë Autosomal dominant hyper-IgE
®“°‡™◊ÈÕ Staphylococcus aureus ´”È®π‡°‘¥ syndrome§«√„Àâantibioticprophylaxis‡æÕ◊˪ÕÑ ß°π—
pneumatocele ·≈–¡√’–¥∫— IgE „π‡≈Õ◊¥∑ Ë’ߟ¡“° °“√µ¥‘‡™Õ◊È Staphylococcus aureus §«√¡°’“√‡Ω“Ñ
(¡“°°«à“ 2,000 ¬Ÿπ‘µ/¡≈.) ¡’°“√∂à“¬∑Õ¥∑“ß µ‘¥µ“¡°“√‡°‘¥‚√§„π√–∫∫ÕË◊πÊ ‡™àπ °√–¥Ÿ°§¥
æπ—∏°ÿ√√¡ 2 ·∫∫ §Õ◊ ‡ªπì µπâ
ë Autosomal dominant hyper-IgE
syndrome (Job syndrome) ‡ªπì ™π¥‘∑æË’∫∫Õà ¬∑ Ë’¥ÿ ‚√§∑’Ë¡§’«“¡º¥‘ ª°µ¢‘Õß°“√§«∫§ÿ¡¿Ÿ¡§‘¡âÿ °π—
‡°‘¥®“°°“√°≈“¬æ—π∏ÿå¢Õ߬’π STAT 3 ºŸâªÉ«¬¡’ ‚√§„π°≈¡ÿà π¡È’¥’ß—µÕà ‰ªπ’È
°“√µ¥‘‡™ÕÈ◊∑ªË’Õ¥‰¥∫â Õà ¬®“°‡™ÕÈ◊ Staphylococcus 1. Familial hemophagocytic lympho-
aureus (∑”„À‡â °¥‘Ω„ï πªÕ¥) µ¥‘‡™Õ◊È√“ (Aspergillus, histiocytosis (HLH) with hypopigmentation
Candida) ‰¥âßà“¬‡πË◊Õß®“°¡’§«“¡º‘¥ª°µ‘¢Õß°“√ ª√–°Õ∫¥â«¬ Chediak-Higashi syndrome,
√“â ß IL-17 πÕ°®“°π¬’Èß—¡’Õ“°“√· ¥ß¢Õß√–∫∫ Griscelli syndrome type 2 ·≈– Hermansky-
ÕπË◊Ê ‰¥·â °à ¡°’√–¥°Ÿ§¥ °√–¥°Ÿ∫“ßÀ√Õ◊À°—ß“à ¬ øπí Pudlak syndrome type 2 ‡ªπì µπâ ‚¥¬ Chediak-
π”Èπ¡À≈ÿ¥™â“ ≈—°…≥–„∫Àπâ“¡’§«“¡º‘¥ª°µ‘‡™àπ Higashi syndrome (CHS) ‡°¥‘®“°§«“¡º¥‘ª°µ‘
„∫Àπ“â ‰¡ à ¡¡“µ√ Àπ“â º“°‚Àπ° µ“≈°÷ ®¡°Ÿ°«“â ß ¢Õ߬π’ lysosomal trafficking regulator (LYST)
º‘«Àπ—ß∑Ë’„∫Àπâ“¡’≈—°…≥–À¬“∫ °“√µ√«®∑“ßÀâÕß ´ßË÷∑”Àπ“â ∑ ’Ë√“â ß‚ª√µπ’∑ Ë’”§≠—„π°“√¢π ßà  “√µ“à ßÊ
ªÆ‘∫—µ‘°“√∑“ß¿Ÿ¡‘§ÿâ¡°—π„π√–∫∫ humoral ·≈– ‡¢“â  Ÿà lysosome ‡¡Õ◊Ë‚ª√µπ’ lysosomal trafficking

‚√§¿Ÿ¡§‘¡âÿ °π—∫°æ√àÕߪ∞¡¿¡Ÿ ‘Primary Immunodeficiency Disease 161

regulator ¡’§«“¡∫°æ√àÕß ®– àߺ≈µàÕ‚§√ß √â“ß (ALPS) ‚√§π‡È’°¥‘®“°§«“¡º¥‘ª°µ¢‘Õß°√–∫«π°“√
¿“¬„π·≈–¢π“¥¢Õß lysosome ºªâŸ«É ¬¡’oculocu- FAS-pathway apoptosis ´ßË÷∑”Àπ“â ∑§’Ë«∫§¡ÿ°“√
taneous albinism ‡π◊ËÕß®“° melanosome ¡’ apoptosis ¢Õß T ·≈– B cell ºªŸâ «É ¬¡“¥«â ¬Õ“°“√
¢π“¥„À≠°à «“à ª°µ∑‘”„À°â “√°√–®“¬ À’√Õ◊°“√ √“â ß · ¥ß¢Õß lymphoproliferation ‰¥â·°à µàÕ¡
melanin º¥‘ª°µ4‘1 ´ß÷ˇ¡ÕË◊𔇠πâ º¡¡“ Õà ß°≈Õâ ß π”ȇÀ≈◊Õß‚µ µ—∫¡â“¡‚µ autoimmune cytopenia
®ÿ≈∑√√»πå®–æ∫≈—°…≥–°“√°√–®ÿ°°—π¢Õ߇¡Á¥ ’ ‡™πà AIHA, ITP ·≈– neutropenia §«“¡º¥‘ª°µ‘
(clumped pigmentation) °“√∑”ß“π¢Õß lysosome ∑“ß¿¡Ÿ§‘¡âÿ°π—§Õ◊ I¡g°’G“√·‡æ≈–¡‘Ë¢IgπÈ÷A¢Õ42ß polyclonal ∑ßÈ—
„π°“√¶à“‡™◊ÈÕ°Á¡’§«“¡º‘¥ª°µ‘‡πË◊Õß®“°‰¡à “¡“√∂ Õ¡‘¡‚Ÿπ‚°≈∫≈Ÿπ‘ ºªŸâ «É ¬∑ ’Ëß ¬—«“à
 √â“ß phagolysosome ·≈–¡’§«“¡∫°æ√àÕߢÕß ‡ªìπ ALPS §«√‰¥â√—∫°“√µ√«® T cell receptor
lysosome degranulation „π phagosome (TCR) α/β ¢Õß double negative T cell ´÷Ëß
≈—°…≥–‡¡Á¥‡≈◊Õ¥¢“« neutrophil „π peripheral ®–¡§’“à  ßŸº¥‘ª°µ‘
blood smear ®–æ∫ giant granule Õ“°“√· ¥ß
¢Õß°“√µ‘¥‡™◊ÈÕ∑’Ëæ∫∫àÕ¬ §◊Õ ‡°‘¥ΩïÀπÕß‚¥¬ ‚√§∑Ë¡’ §’«“¡º¥‘ ª°µ¢‘Õß complement
‡©æ“–∑Ë’º‘«Àπ—ß·≈–√–∫∫∑“߇¥‘πÀ“¬„® ºâŸªÉ«¬ Õ“°“√· ¥ß¢Õߺ⟪ɫ¬∑Ë’¡’§«“¡º‘¥ª°µ‘¢Õß
 à«π„À≠à®–· ¥ßÕ“°“√ HLH „π™à«ßÕ“¬ÿ10 ªï complement ¡À’≈“°À≈“¬ ‰¥·â °à ¡°’“√µ¥‘‡™Õ◊È∫Õà ¬
·√°¢Õß™«’µ‘´ßË÷∂°Ÿ°√–µπâÿ®“°°“√µ¥‘‡™ÕÈ◊‰«√ —EBV ¡’¿“«–¿Ÿ¡‘§âÿ¡°—πµàÕµâ“πµ—«‡Õß À√◊Õ‚√§¢âÕÕ—°‡ ∫
¡’Õ“°“√· ¥ß∑“ß√–∫∫ª√– “∑·≈–¿“«–‡≈◊Õ¥ √Ÿ¡“µÕ¬¥å ·≈–¡’Õ“°“√ angioedema ´÷ËßÕ“°“√∑Ë’
ÕÕ°ßà“¬‡π◊ËÕß®“°‡°≈Á¥‡≈◊Õ¥¡’‚§√ß √â“ߧ≈⓬°—∫ · ¥ßÕÕ°¡“¢÷Èπ°—∫™π‘¥¢Õß complement ∑Ë’¢“¥
lysosome ‡™àπ ºâŸªÉ«¬ C3 deficiency ¡—°®–¡’°“√µ‘¥‡™◊ÈÕ
2. Lymphoproliferative syndrome encapsulated bacteria (S. pneumoniae, H.
‚√§πÈ’¡’°“√∂à“¬∑Õ¥∑“ßæ—π∏ÿ°√√¡·∫∫ influenzae) ‡πÕ◊Ëß®“° C3 ¡§’«“¡ ”§≠—µÕà °“√‡°¥‘
X-linked ®ß÷¡™’ÕË◊‡√¬’°«“à X-linked lymphopro- opsonization43 ºªŸâ «É ¬∑¡’˧’«“¡º¥‘ª°µ∑‘Ë’terminal
liferative disease (XLP) ºªâŸ«É ¬¡°’“√µ¥‘‡™Õ◊ȉ«√ — complement (C5-C9) ¡—°®–¡’°“√µ‘¥‡™◊ÈÕ
EBV ®π∑”„Àâ B cell ·≈– cytotoxic T cell ‡°¥‘ Neisseria spp. ‰¥âßà“¬‡π◊ËÕß®“°‰¡à “¡“√∂ √â“ß
°“√·∫àßµ—«®π§«∫§ÿ¡‰¡à‰¥â𔉪 àŸ‚√§ fulminant membrane attack complex (MAC) ¡“°”®—¥
infectious mononucleosis √«à ¡°∫—¡’HLH ¡–‡√ßÁ ‡™È◊Õ‰¥â ºâŸªÉ«¬ C1, C2, C4 deficiency æ∫°“√
µàÕ¡π”ȇÀ≈◊Õß ·≈–¡’dysgammaglobulinemia5 µ¥‘‡™ÕÈ◊‰¥πâ Õâ ¬‡πÕË◊ß®“° alternative pathway ¬ß—ª°µ‘
≈—°…≥–§«“¡º‘¥ª°µ‘¢Õß√–∫∫¿Ÿ¡‘§âÿ¡°—π¡’À≈“° ·µºà ªŸâ «É ¬°≈¡ÿà π®È’–æ∫¿“«– autoimmune À√Õ◊‚√§¢Õâ
À≈“¬µß—È·µà hypogammaglobulinemia °“√ √“â ß Õ°—‡ ∫√¡Ÿ“µÕ¬¥å ¡“°°«“à ºªŸâ «É ¬ C1q deficiency
·Õπµ∫‘Õ¥∑’®Ë’”‡æ“–µÕà «§—´π’∑‡Ë’§¬‰¥Õâ ¬„àŸπ√–¥∫—µË” æ∫«“à  ¡—æπ—∏°å ∫—°“√‡°¥‘‚√§ SLE ·≈–¡°’“√µ¥‘‡™ÕÈ◊
°«à“ª°µ‘ ·≈–°“√‡æË‘¡®”π«π¢Õ߇¡Á¥‡≈◊Õ¥¢“« ‰¥∫â Õà ¬  «à πºªâŸ«É ¬∑¢Ë’“¥ C1 inhibitor ¡°—¡“¥«â ¬
™π¥‘ lymphocyte µÕà µ«—°√–µπÿâ ¡§’“à ≈¥≈ß Õ“°“√ recurrent angioedema ‚¥¬∑Ë’‰¡à¡’Õ“°“√
3. Syndrome with autoimmunity ‡™àπ ¢‡æաˑߢπÈ÷ur·t≈ic–a¡r°’ia“√√≈à«¥¡≈¥ß¢â«Õ¬ß√‡π–¥Ë◊Õ∫—ß®C“°4¡43’bradykinin
autoimmune lymphoproliferative syndrome

162 ¬À‘ «“  ÿ¢ «— ¥‘Ï

 ”À√∫—°≈¡ÿà ‚√§∑¡’˧’«“¡º¥‘ª°µ∑‘“ß pheno- ¡’°“√µ‘¥‡™◊ÈÕ´È”Ê ·≈–√ÿπ·√ß πÕ°®“°°“√µ‘¥‡™È◊Õ
type „π°≈¡àÿ∑Ë’9 ®–‰¡¢à Õ°≈“à «∂ß÷„π∫∑π’ȇπÕ◊Ëß®“° ¬—ß¡’º≈¥â“πÕË◊πÊ ‡™àπ ‚√§¿Ÿ¡‘§ÿâ¡°—πµàÕµâ“πµ—«‡Õß
‰¡æà ∫„π‡¥°Á ‚√§ autoinflammatory À√Õ◊‚√§¡–‡√ßÁ „πª®í ®∫ÿπ—
¡¬’π’¡“°°«“à 200 ™π¥‘ ∑æË’∫«“à  ¡—æπ—∏°å ∫—°“√‡°¥‘
∫∑ √ªÿ ‚√§¿¡Ÿ§‘¡ÿâ °π—∫°æ√Õà ߪ∞¡¿¡Ÿ‘°“√«π‘®‘©¬—‚√§‰¥‡â √«Á

‚√§¿¡Ÿ§‘¡ÿâ °π—∫°æ√Õà ߪ∞¡¿¡Ÿ‡‘ªπì °≈¡àÿ‚√§∑¡Ë’’ ·≈–„Àâ°“√√—°…“µ“¡·π«∑“ߪؑ∫—µ‘∑”„À⺟âªÉ«¬¡’
°“√∑”ß“π¢Õß√–∫∫¿¡Ÿ§‘¡ÿâ °π—∑º’Ë¥‘ª°µ‘∑”„Àºâ ªŸâ «É ¬ §≥ÿ¿“晫’µ‘∑¥Ë’·’≈–Õµ—√“°“√√Õ¥™«’µ‘¢ÕߺªâŸ«É ¬¬“«
π“π¢π÷È
‡Õ° “√Õ“âßÕß‘

1. Chinen J, Shearer WT. Secondary immunodefi- ª∞¡¿Ÿ¡‘. „π: Õ√∑—¬ æ‘∫Ÿ≈‚¿§“π—π∑å, π«≈Õπߧå
ciencies, including HIV infection. J Allergy Clin «»‘…‘Ø πÿ∑√, «√«™‘≠å ‡À≈Õ◊߇«™°“√, ª≠í ®¡“ ª“®“√¬,å
Immunol. 2010;125(2 Suppl 2):S195-203. ∫√√≥“∏‘°“√. ‚√§¿Ÿ¡‘·æâ·≈–‚√§¿Ÿ¡‘§ÿâ¡°—π∫°æ√àÕß
2. Subbarayan A, Colarusso G, Hughes SM, ª∞¡¿Ÿ¡‘„π‡¥Á°. °√ÿ߇∑æ¡À“π§√: ∫√‘…—∑  √√æ “√
Gennery AR, Slatter M, Cant AJ, et al. Clinical ®”°¥—; 2555. Àπâ“ 515-43.
features that identify children with primary 8. Rosenzweig SD, Fleisher TA. Overview of
immunodeficiency diseases. Pediatrics. 2011;127 Laboratory Studies for Evaluating Primary
(5):810-6. Immune Deficiency Disorders. In: Sullivan KE,
3. Notarangelo LD. Primary immunodeficiencies. Stiehm ER, Notarangelo LD, Holland SM,
J Allergy Clin Immunol. 2010;125(2 Suppl Cunningham-Rundles C, Fischer A, editors.
2):S182-94. Stiehmûs Immune Deficiencies. United
4. Bousfiha A, Jeddane L, Picard C, Ailal F, Bobby Kingdom: Elseiver inc.; 2014. p. 61-72.
Gaspar H, Al-Herz W, et al. The 2017 IUIS 9. Ballow M. Primary immunodeficiency disorders:
Phenotypic Classification for Primary Immuno antibody deficiency. J Allergy Clin Immunol.
deficiencies. J Clin Immunol. 2018;38(1):129-43. 2002;109(4):581-91.
5. Bonilla FA, Khan DA, Ballas ZK, Chinen J, 10. Notarangelo LD, Sorensen R. Is it necessary to
Frank MM, Hsu JT, et al. Practice parameter identify molecular defects in primary immuno-
for the diagnosis and management of primary deficiency disease? J Allergy Clin Immunol.
immunodeficiency. J Allergy Clin Immunol. 2008;122(6):1069-73.
2015;136(5):1186-205.e1-78. 11. Oliveira JB, Fleisher TA. Laboratory evaluation
6. Benjasupattananan P, Simasathein T, of primary immunodeficiencies. J Allergy Clin
Vichyanond P, Leungwedchakarn V, Immunol. 2010;125(2 Suppl 2):S297-305.
Visitsunthorn N, Pacharn P, et al. Clinical 12. Griffith LM, Cowan MJ, Notarangelo LD, Kohn
characteristics and outcomes of primary DB, Puck JM, Pai SY, et al. Primary Immune
immunodeficiencies in Thai children: an 18-year Deficiency Treatment Consortium (PIDTC)
experience from a tertiary care center. J Clin report. J Allergy Clin Immunol. 2014;133(2):
Immunol. 2009;29(3):357-64. 335-47.
7. Õ√∑—¬ æ‘∫Ÿ≈‚¿§“π—π∑å. ∫∑π”‚√§¿Ÿ¡‘§âÿ¡°—π∫°æ√àÕß 13. Shearer WT, Dunn E, Notarangelo LD, Dvorak

‚√§¿Ÿ¡‘§ÿ¡â°—π∫°æ√àÕߪ∞¡¿¡Ÿ ‘Primary Immunodeficiency Disease 163

CC, Puck JM, Logan BR, et al. Establishing logical, and molecular analysis in a large cohort
diagnostic criteria for severe combined immu- of patients with X-linked agammaglobulinemia:
nodeficiency disease (SCID), leaky SCID, and an Italian multicenter study. Clin Immunol.
Omenn syndrome: the Primary Immune 2002;104(3):221-30.
Deficiency Treatment Consortium experience. 21. Gathmann B, Mahlaoui N, Gerard L,
J Allergy Clin Immunol. 2014;133(4):1092-8. Oksenhendler E, Warnatz K, Schulze I, et al.
14. Lev A, Simon AJ, Trakhtenbrot L, Goldstein I, Clinical picture and treatment of 2212 patients
Nagar M, Stepensky P, et al. Characterizing T with common variable immunodeficiency. J
cells in SCID patients presenting with reactive Allergy Clin Immunol. 2014;134(1):116-26.
or residual T lymphocytes. Clin Dev Immunol. 22. Cunningham-Rundles C. The many faces of
2012;2012:261470. common variable immunodeficiency. Hematology
15. Sponzilli I, Notarangelo LD. Severe combined Am Soc Hematol Educ Program. 2012;2012:301-5.
immunodeficiency (SCID): from molecular basis 23. Qamar N, Fuleihan RL. The hyper IgM
to clinical management. Acta Biomed. 2011;82 syndromes. Clin Rev Allergy Immunol. 2014;
(1):5-13. 46(2):120-30.
16. Kwan A, Abraham RS, Currier R, Brower A, 24. Aytekin C, Tuygun N, Gokce S, Dogu F,
Andruszewski K, Abbott JK, et al. Newborn Ikinciogullari A. Selective IgA deficiency: clinical
screening for severe combined immunodefi- and laboratory features of 118 children in
ciency in 11 screening programs in the United Turkey. J Clin Immunol. 2012;32(5):961-6.
States. Jama. 2014;312(7):729-38. 25. Aghamohammadi A, Mohammadi J, Parvaneh
17. Buckley RH, Schiff SE, Schiff RI, Markert L, N, Rezaei N, Moin M, Espanol T, et al. Progression
Williams LW, Roberts JL, et al. Hematopoietic of selective IgA deficiency to common variable
stem-cell transplantation for the treatment of immunodeficiency. Int Arch Allergy Immunol.
severe combined immunodeficiency. N Engl J 2008;147(2):87-92.
Med. 1999;340(7):508-16. 26. Horwitz A, Kung SJ, McGeady SJ. Infants with
18. Winkelstein JA, Marino MC, Lederman HM, low immunoglobulin levels: Isolated low IgA
Jones SM, Sullivan K, Burks AW, et al. level vs other immunoglobulin abnormalities.
X-linked agammaglobulinemia: report on a Ann Allergy Asthma Immunol. 2010;105(4):
United States registry of 201 patients. Medicine 295-8.
(Baltimore). 2006;85(4):193-202. 27. Visitsunthorn N, Hengcrawit W, Jirapong-
19. van den Bruele T, Mourad-Baars PE, Claas EC, sananuruk O, Luangwedchakam V. Immunoglobulin G
van der Plas RN, Kuijper EJ, Bredius RG. (IgG) subclass deficiency in Thai children. Asian
Campylobacter jejuni bacteremia and Helicobacter Pac J Allergy Immunol. 2011;29(4):332-7.
pylori in a patient with X-linked agammaglobu- 28. Herrod HG. Follow-up of pediatric patients with
linemia. Eur J Clin Microbiol Infect Dis. 2010;29 recurrent infection and mild serologic immune
(11):1315-9. abnormalities. Ann Allergy Asthma Immunol.
20. Plebani A, Soresina A, Rondelli R, Amato GM, 1997;79(5):460-4.
Azzari C, Cardinale F, et al. Clinical, immuno- 29. Kuruvilla M, de la Morena MT. Antibiotic

164 ¬‘À«“  ¢ÿ « —¥‘Ï

prophylaxis in primary immune deficiency LD, Schulz A, Thrasher AJ, Mazzolari E, et al.
disorders. J Allergy Clin Immunol Pract. 2013;1 Long-term outcome following hematopoietic
(6):573-82. stem-cell transplantation in Wiskott-Aldrich
30. Manroe BL, Weinberg AG, Rosenfeld CR, syndrome: collaborative study of the European
Browne R. The neonatal blood count in health Society for Immunodeficiencies and European
and disease. I. Reference values for neutrophilic Group for Blood and Marrow Transplantation.
cells. J Pediatr. 1979;95(1):89-98. Blood. 2008;111(1):439-45.
31. Harris ES, Weyrich AS, Zimmerman GA. Lessons 38. McDonald-McGinn DM, Sullivan KE.
from rare maladies: leukocyte adhesion Chromosome 22q11.2 deletion syndrome
deficiency syndromes. Curr Opin Hematol. (DiGeorge syndrome/velocardiofacial syndrome).
2013;20(1):16-25. Medicine (Baltimore). 2011;90(1):1-18.
32. Kang EM, Marciano BE, DeRavin S, Zarember 39. Market ML. Defects in thymic development:
KA, Holland SM, Malech HL. Chronic Digeorge/CHARGE/chromosome 22q11.2
granulomatous disease: overview and hemato- deletion. In: Sullivan KE, Stiehm ER,
poietic stem cell transplantation. J Allergy Clin Notarangelo LD, Holland SM, Cunningham-
Immunol. 2011;127(6):1319-26; quiz 27-8. Rundles C, Fischer A, editors. Stiehmûs immune
33. Winkelstein JA, Marino MC, Johnston RB, Jr., deficiencies. United Kingdom: Elsevier inc.;
Boyle J, Curnutte J, Gallin JI, et al. Chronic 2014. p. 221-42.
granulomatous disease. Report on a national 40. Rael EL, Marshall RT, McClain JJ. The Hyper-
registry of 368 patients. Medicine (Baltimore). IgE Syndromes: Lessons in Nature, From Bench
2000;79(3):155-69. to Bedside. World Allergy Organ J. 2012;5
34. Chiriaco M, Salfa I, Di Matteo G, Rossi P, (7):79-87.
Finocchi A. Chronic granulomatous disease: 41.  «ÿ√√≥’Õ∑ÿ¬—· ß ¢ÿ. ‚√§∑¡Ë’°’“√§«∫§¡ÿ∑º’Ë¥‘ª°µ¢‘Õß
Clinical, molecular, and therapeutic aspects. √–∫∫¿¡Ÿ§‘¡ÿâ °π—. „π: Õ√∑¬—æ∫‘≈Ÿ‚¿§“ππ—∑,å π«≈Õπߧå
Pediatr Allergy Immunol. 2016;27(3):242-53. «»‘…‘Ø πÿ∑√, «√«™‘≠å ‡À≈Õ◊߇«™°“√, ª≠í ®¡“ ª“®“√¬,å
35. Albert MH, Notarangelo LD, Ochs HD. Clinical ∫√√≥“∏‘°“√. ‚√§¿Ÿ¡‘·æâ·≈–‚√§¿Ÿ¡‘§âÿ¡°—π∫°æ√àÕß
spectrum, pathophysiology and treatment of the ª∞¡¿Ÿ¡‘„π‡¥Á°. °√ÿ߇∑æ¡À“π§√: ∫√‘…—∑  √√æ “√
Wiskott-Aldrich syndrome. Curr Opin Hematol. ®”°¥—; 2555. Àπ“â 747-84.
2011;18(1):42-8. 42. Teachey DT. New advances in the diagnosis and
36. Ochs HD, Filipovich AH, Veys P, Cowan MJ, treatment of autoimmune lymphoproliferative
Kapoor N. Wiskott-Aldrich syndrome: diagnosis, syndrome. Curr Opin Pediatr. 2012;24(1):1-8.
clinical and laboratory manifestations, and 43. Wen L, Atkinson JP, Giclas PC. Clinical and
treatment. Biol Blood Marrow Transplant. laboratory evaluation of complement deficiency.
2009;15(1 Suppl):84-90. J Allergy Clin Immunol. 2004;113(4):585-93;
37. Ozsahin H, Cavazzana-Calvo M, Notarangelo quiz 94.

∫∑∑’Ë

¿“«–‚≈À‘µ®“ß®“°°“√¢“¥ “√Õ“À“√
Nutritional Anemia

11

™“≈π‘ ’¡πµå‡ √π’  ÿ√≥å

¿“«–‚≈Àµ‘®“ß §Õ◊ ¿“«–∑¡’Ë√’–¥∫—Œ‚’¡‚°≈∫π‘ °“√¥Ÿ¥´÷¡∏“µÿ‡À≈Á° ·≈–°“√π”¡“„™â(iron
µ”Ë°«“રµ‘‡ªπìª≠í À“∑“ß‚≈Àµ‘«∑‘¬“∑æË’∫‰¥∫âÕଠmetabolism and absorption)
∑Ë’ ÿ¥ ¿“«–‚≈À‘µ®“߇°‘¥‰¥â®“°À≈“¬ “‡Àµÿ„π«—¬ „π√à“ß°“¬¢Õß∑“√°§≈Õ¥§√∫°”Àπ¥ ¡’
‡¥°Á “‡Àµ∑ÿæË’∫‰¥∫âÕà¬∑ Ë’¥ÿ§Õ◊ ®“°°“√¢“¥ “√Õ“À“√ ∏“µÿ‡À≈Á°‡ªìπÕߧåª√–°Õ∫ 0.5 °. ‡¡◊ËÕ‡∑’¬∫°—∫
 “√Õ“À“√∑’Ë®”‡ªìπµàÕ°“√ √â“߇¡Á¥‡≈◊Õ¥·¥ß ‡™àπ º„ŸâÀ≠∑à¡Ë’∏’“µ‡ÿÀ≈°ÁÕ¬àŸ5 °. À¡“¬§«“¡«“à„π∑°ÿÊ «π—
∏“µ‡ÿÀ≈°Á ‚ø‡≈µ «µ‘“¡π‘∫1’2 ‰πÕ“´π‘ §Õª‡ªÕ√å √à“ß°“¬®–¥Ÿ¥´÷¡∏“µÿ‡À≈Á°‚¥¬‡©≈’ˬ 0.8 ¡°. ‡ªìπ
‡ªìπµâπ ´Ë÷ß¿“«–¢“¥∏“µÿ‡À≈Á°‡ªì𠓇Àµÿ∑’Ëæ∫‰¥â √–¬–‡«≈“ 15 ªï°“√¥¥Ÿ´¡÷∏“µ‡ÿÀ≈°Áª√¡‘“≥ 0.8-
∫àÕ¬∑Ë’ ÿ¥1 ‡√“ “¡“√∂®”·π°ª√–‡¿∑¢Õß°“√¢“¥ 1 ¡°. µÕà«π—π‡’È欒ßæÕ°∫—§«“¡µÕâß°“√¢Õß√“àß°“¬
 “√Õ“À“√‰¥â®“° °“√´—°ª√–«—µ‘·≈–µ√«®√à“ß°“¬ „π°“√‡®√≠‘‡µ∫‘‚µ ‡πÕ◊Ëß®“°∏“µ‡ÿÀ≈°Á„πÕ“À“√®–∂°Ÿ
µ≈Õ¥®π≈—°…≥–∑Ë’·µ°µà“ß°—π∑“ß°“√µ√«®∑“ß ¥Ÿ¥´÷¡‡æ’¬ß√âÕ¬≈– 10 ¥—ßπ—Èπ°“√√—∫ª√–∑“π‡À≈Á°
ÀâÕߪؑ∫—µ‘°“√ ¥—ßπ—Èπ®÷ß¡’§«“¡®”‡ªìπÕ¬à“߬ˑß∑Ë’‡√“ ª√‘¡“≥‡æ’¬ß 8-10 ¡°./«—π °Á‡æ’¬ßæÕ°—∫§«“¡
®–µâÕß®”·π°™π‘¥¢Õß “√Õ“À“√∑’Ë¢“¥„À≥⠵Õâß°“√¢Õß√“àß°“¬4 ∏“µ‡ÿÀ≈°Á∑∂Ë’°Ÿ¥¥Ÿ´¡÷®–∂°Ÿπ”
‡πË◊Õß®“°®–¡’°“√√—°…“∑’Ë·µ°µà“ß°—πÕÕ°‰ª „π∑Ë’πÈ’ ‰ª„™„âπ°“√ √“â߇¡¥Á‡≈Õ◊ ¥·¥ß„π‰¢°√–¥°ŸÕ°’ «àπÀπßË÷
®–¢Õ°≈“à«∂ß÷ 2 ¿“«–∑æË’∫∫ÕଧÕ◊ ¿“«–‚≈Àµ‘®“ß ®–∂°Ÿ‡°∫Á‰«„âπ√ªŸ¢Õß ferritin À√Õ◊ hemosiderin „π
®“°°“√¢“¥∏“µ‡ÿÀ≈°Á (iron deficiency anemia) macrophage ·≈– hepatocyte ·≈–¡’°“√ Ÿ≠‡ ’¬
·≈–¿“«–‚≈À‘µ®“ß®“°°“√¢“¥‚ø‡≈µ «‘µ“¡‘π∫’12 ∏“µ‡ÿÀ≈°Áª√–¡“≥ 1 ¡°.µÕà«π— ‡¡¥Á‡≈Õ◊ ¥·¥ß¡Õ’“¬ÿ
(megaloblastic anemia) 120 «π— À≈ß—®“°ππÈ—®–∂°Ÿ∑”≈“¬‰ª ∏“µ‡ÿÀ≈°Á°®Á–
∂°Ÿ¥¥Ÿ´¡÷π”°≈∫—¡“„™„âÀ¡à
Iron deficiency anemia ∏“µÿ‡À≈Á°®–∂Ÿ°¥Ÿ¥´÷¡∑’Ëduodenum ‚¥¬
°“√¢“¥∏“µÿ‡À≈Á°‡ªìπ¿“«–∑ÿæ‚¿™π“°“√∑Ë’ ∏“µ‡ÿÀ≈°Á®–‡ª≈¬Ë’π®“°√ªŸ¢Õß Fe3+ „πÕ“À“√‡ªπì
æ∫‰¥∫âÕà¬∑ Ë’¥ÿ∑«—Ë‚≈° ª√–™“°√‚≈°ª√–¡“≥ 2 æπ— Fe2+ ∑≈’Ë–≈“¬πÈ”‰¥„âπ ¿“«–∑‡’˪πì°√¥ °“√¥¥Ÿ´¡÷
≈“âπ§π∑«—Ë‚≈°¡¿’“«–‚≈Àµ‘®“ß®“°°“√¢“¥∏“µ‡ÿÀ≈°Á2 ‡À≈Á°®–∑”‰¥â¥’„π¿“«–∑’ˇªìπ°√¥  “√∑’Ë°√–µÿâπ°“√
·≈–‚¥¬¡“°‡ªìπ„πª√–‡∑»°”≈—ßæ—≤π“ ºŸâªÉ«¬°≈ÿà¡ ¥¥Ÿ´¡÷∏“µ‡ÿÀ≈°Á ‡™πà ascorbic acid, citrate ·≈–
‡ ’ˬ߮–‡ªìπ‡¥Á°°àÕπ«—¬‡√’¬π·≈–ºŸâÀ≠‘ß«—¬√ÿàπ «—¬ ¿“«–°“√¢“¥ÕÕ°´‘‡®π  à«π°“√≈¥°“√¥Ÿ¥´÷¡∏“µÿ
‡®√≠‘æπ—∏∑å¡Ë’ª’√–®”‡¥Õ◊ π3 ‡À≈°Á®–‡°¥‘¢π÷È„π°√≥‡’™πà ¡¿’“«– lead poisoning

166 ™“≈π‘’¡πµ‡å √π’ÿ √≥å

À√Õ◊ ‰¥√â∫— “√∫“ß™π¥‘ ‡™πà bran, tannins, starch ‡À≈°Á®–‡ª≈¬’Ëπ®“° Fe2+ ‡ªπì Fe3+ Õ°’§√ßÈ— ·≈–®–
(·ªßÑ “≈)’, plant phytates, phosphates, πÈ”™“ ¢π à߉ª ŸàÕ«¬—«–µ“àßÊ ‚¥¬°“√®∫—°∫— transferrin
À√Õ◊ π¡««—‡ªπìµπâ ‡À≈°Á®–∂°Ÿ¥¥Ÿ´¡÷„π√ªŸ Fe2+ ‚¥¬ „π°√–· ‡≈◊Õ¥ ·≈–Õ’° à«π®–‡°Á∫„π√Ÿª¢Õß non
º“àπ DMT1 (divalent metal transporter1) ∑Ë’ transferrin bound iron ‡°Á∫„πµ—∫ µ—∫ÕàÕπ
®–‡ªî¥„Àâ‡À≈Á°‡¢â“ àŸ‡´≈≈凬◊ËÕ∫ÿ≈”‰ â(enterocyte) À—«„® ‡ªìπµâπ ‡À≈Á°∑Ë’∂Ÿ° – ¡‰«âÀ√◊Õ∑’ˇ¡Á¥‡≈◊Õ¥
‡À≈Á°®–∂Ÿ°¥Ÿ¥´÷¡‡¢â“ Ÿà°√–· ‡≈◊Õ¥ ‚¥¬ºà“π ·¥ß∂Ÿ°∑”≈“¬®–∂Ÿ°π”°≈—∫¡“„™â„À¡àÕ’°§√—Èß5,6
ferroportin ∑’Ëbasolateral membrane ¢Õß ¥ß—√ªŸ∑’Ë11.1
enterocyte ∑”„Àâ‡À≈Á°‡¢â“ Ÿà°√–· ‡≈◊Õ¥‰¥â „π „π™«àßÕ“¬ÿ6 ‡¥Õ◊ π·√°¢Õß™’«‘µ ∏“µÿ‡À≈Á°
¿“«–∑Ë’¡’‡À≈Á°‡°‘π À√◊Õ¡’°“√Õ—°‡ ∫ hepcidin ∑Ë’ ∑’ˉ¥â√—∫®“°¡“√¥“‡æ’¬ßæÕ ”À√—∫∑“√° ¬°‡«âπ
√â“ß®“°µ—∫®–‰ª·¬àß®—∫°—∫ ferroportin ∑”„Àâ ‡¥Á°∑“√°§≈Õ¥°àÕπ°”Àπ¥ª√‘¡“≥‡À≈Á°®–‡æ’¬ß
ferroportin ∂°Ÿ∑”≈“¬‰ª ∑”„Àâenterocyte µ“¬ æÕ·§à3-4 ‡¥Õ◊ π·√°‡∑“àππ—È À≈ß—®“°ππ—È®–§Õà¬Ê
‡À≈°Á°®Á–‡¢“â °Ÿà√–· ‡≈Õ◊ ¥‰¡‰à¥â´ß÷Ë„π∑“ßµ√ß°π—¢“â¡ ≈¥≈ßµ“¡√–¬–‡«≈“
hepcidin ®–¡ª’√¡‘“≥≈¥≈ß „π¿“«–∑¢’Ë“¥∏“µ‡ÿÀ≈°Á π¡·¡à·≈–π¡«—«¡’ª√‘¡“≥∏“µÿ‡À≈Á°„°≈⇧’¬ß
À√◊Õ°“√‡æ‘Ë¡ erythropoietic activity ‡™àπ ‚√§ °—π ·µà∏“µÿ‡À≈Á°„ππ¡·¡à∂Ÿ°¥Ÿ¥´÷¡‰¥â¥’°«à“„ππ¡
∏“≈ —´‡’¡¬’‡¡Õ◊ˇÀ≈°Á∂°Ÿ¥¥Ÿ´¡÷‡¢“â °Ÿà√–· ‡≈Õ◊ ¥·≈«â ««—∂ß÷ 2-3 ‡∑“à ¥ß—ππÈ—®ß÷·π–π”„À‡â¥°Á∑“√°·√°‡°¥‘

√ªŸ∑Ë’11.1 Iron metabolism and absorption (¥¥—·ª≈ß®“°‡Õ° “√Õ“âßÕß‘À¡“¬‡≈¢ 5 ·≈–√ªŸ«“¥‚¥¬
æ≠.°π°°“≠®πå𓧖 «ÿ√√≥)

DMT1 = Divalent metal transporter1, HOLO-TF = holo-transferrin

¿“«–‚≈À‘µ®“ß®“°°“√¢“¥ “√Õ“À“√ Nutritional Anemia 167

∂ß÷ 6 ‡¥Õ◊ π¥¡Ë◊ π¡·¡‡à欒ßÕ¬“à߇¥¬’« ·µ°à¬Áß—„À¥â¡◊Ë ª®í®¬—‡ ¬’ËߢÕß¿“«–‚≈Àµ‘®“ß®“°°“√¢“¥∏“µÿ
π¡·¡·à≈–À≈°’‡≈¬Ë’ßπ¡««—®πÕ“¬§ÿ√∫ 12 ‡¥Õ◊ π ·µà ‡À≈Á°8,9
„π™«àßÕ“¬ÿ4-6 ‡¥Õ◊ π‡ªπìµπ≪§«√„ÀÕâ“À“√‡ √¡‘ 1. ∑“√°§≈Õ¥°Õàπ°”Àπ¥ : °“√≈¥≈ߢÕß
∑¡Ë’∏’“µ‡ÿÀ≈°Á ßŸ(iron-enriched food)7 erythropoietin
2. °“√‰¥â√—∫π¡·¡à‡æ’¬ßÕ¬à“߇¥’¬«„π‡¥Á°∑’Ë
 “‡Àµ¢ÿÕß¿“«–‚≈Àµ‘®“ß®“°°“√¢“¥∏“µ‡ÿÀ≈°Á Õ“¬¡ÿ“°°«“à 6 ‡¥Õ◊ π
‡°‘¥®“°°“√¥Ÿ¥´÷¡∏“µÿ‡À≈Á°∫°æ√àÕß ∏“µÿ 3. °“√√∫—ª√–∑“ππ¡««—°ÕàπÕ“¬ÿ12 ‡¥Õ◊ π
‡À≈Á°∑’Ë – ¡≈¥≈ßÀ√◊Õ‰¥â√—∫∏“µÿ‡À≈Á°‰¡à‡æ’¬ßæÕ 4. ‡¥°Á„π§“à¬Õæ¬æÀ√Õ◊ §“ର°—°π—
¡’§«“¡º‘¥ª°µ‘∑Ë’°“√¢π àß∏“µÿ‡À≈Á°‰ª àŸ‡´≈≈凡Á¥ 5. ‡¥Á°«—¬‡µ“–·µ–À√◊Õ«—¬√àÿπ : °“√‡æË‘¡¢÷Èπ
‡≈◊Õ¥·¥ß ·≈–§«“¡º‘¥ª°µ‘∑’ˇ¡Á¥‡≈◊Õ¥·¥ß‡Õß ¢Õßπ”ÈÀπ°—µ«—(¡§’«“¡µÕâß°“√∏“µ‡ÿÀ≈°Á‡æ¡Ë‘¢πÈ÷)
¥ß—µ“√“ß∑’Ë11.1 6. π—°°’Ó : ‡æË‘¡°“√ Ÿ≠‡ ’¬∏“µÿ‡À≈Á°®“°
∑“߇¥π‘Õ“À“√

µ“√“ß∑’Ë11.1  “‡Àµ¢ÿÕß iron deficiency anemia ·∫ß൓¡æ¬“∏ ‘¿“æ

欓∏ ‘¿“æ  “‡Àµÿ

°“√¥¥Ÿ´¡÷‰¡‡à欒ßæÕ ë °“√‰¥√â∫—¬“≈¥°√¥
ë ‰¥√â∫— “√∫“ß™π¥‘∑¬’Ë∫—¬ßÈ—°“√¥¥Ÿ´¡÷∏“µ‡ÿÀ≈°Á ‡™πà bran, tannins
ë Loss or dysfunction of absorptive enterocytes

‡À≈°Á∑ Ë’– ¡¡‰’¡‡à欒ßæÕ ë °“√‡ ¬’‡≈Õ◊ ¥
ë °“√√∫—ª√–∑“πÕ“À“√‰¡‡à欒ßæÕ
ë °“√Õ°—‡ ∫À√Õ◊ µ¥‘‡™ÕÈ◊
ë Defects in intestinal iron uptake
ë §«“¡µÕâß°“√∏“µ‡ÿÀ≈°Á‡æ¡‘Ë¢π÷È (∑“√°À√Õ◊ «¬—√πÿà)
§«“¡º¥‘ª°µ„‘π°“√¢π ßà∏“µ‡ÿÀ≈°Á ë Atransferrinemia
‰ª ‡àŸ´≈≈‡å¡¥Á‡≈Õ◊ ¥·¥ßÀ√Õ◊ §«“¡ ë Anti-transferrin receptor antibodies

º¥‘ª°µ¿‘“¬„π‡´≈≈‡å¡¥Á‡≈Õ◊ ¥·¥ß ë °“√°≈“¬æπ—∏¢ÿåÕ߬π’ DMT1
ë Defects in heme biosynthesis

DMT1 = divalent metal transporter1

168 ™“≈π‘’¡πµå‡ √π’ ÿ√≥å

√–¬–¢Õß°“√¢“¥∏“µÿ‡À≈Á° ·∫àßÕÕ°‡ªìπ 3 ‰¥âπâÕ¬„πªí®®ÿ∫—π11 ∫“ß√“¬¡’Õ“°“√∑πµàÕ ¿“æ
√–¬–5,9 Õ“°“»À𓫉¡‰à¥â(cold intolerance)12
1. Prelatent iron deficiency (iron deple-
tion, negative iron balance): ‡ªπì°“√¢“¥‡À≈°Á °“√«π‘®‘©¬—
„π√–¥∫—‡πÕ◊ȇ¬Õ◊Ë (tissue store) ¬ß—‰¡æà ∫°“√‡ª≈¬’Ëπ °“√«‘π‘®©—¬πÕ°®“°°“√´—°ª√–«—µ‘ µ√«®
·ª≈ß√–¥—∫Œ’‚¡‚°≈∫‘π √–¬–π’Èæ∫«à“¡’ferritin √à“ß°“¬æ∫¿“«–´’¥ ºŸâªÉ«¬∑Ë’´’¥¡“°Õ“®¡’Õ“°“√
πÕ⬰«“à 12 π°./¡≈. · ¥ß¢Õß¿“«–À«—„®«“¬ (congestive heart failure)
2. Latent iron deficiency (iron deficient ‡™àπ µ√«®æ∫ heart murmur ·µàµâÕ߉¡àæ∫µ—∫
erythropoiesis): ¡°’“√≈¥≈ߢÕß∏“µ‡ÿÀ≈°Á – ¡„π ¡“â¡‚µ ‡æ√“–∂“â¡¿’“«–´’¥·≈–µ—∫¡â“¡‚µ Õ“®µâÕß
reticuloendothelial macrophage æ∫¡’serum iron §‘¥∂÷ß¿“«–ÕË◊𠇙àπ ‚√§∏“≈— ´’‡¡’¬ °“√µ√«®∑“ß
(SI) ≈¥≈ßπÕ⬰«“à50 ¡§°./¥≈. total iron-bind- ÀÕâߪØ∫‘µ—°‘“√ §Õ◊ complete blood count (CBC),
ing capacity (TIBC) ‡æË‘¡¢÷Èπ¡“°°«à“§à“ª°µ‘ RBC indices, peripheral blood smear (PBS)
(300-360 ¡§°./¥≈.) ∑”„Àâtransferrin satura- ®–æ∫ hypochromic microcytic ¡’anisocytosis
tion (SI/TIBC x 100) ≈¥≈ßπÕ⬰«“à√Õâ¬≈– 16 ·≈– poikilocytosis ·≈–µ√«®∑“ßÀâÕߪؑ∫—µ‘
‚¥¬§“àŒ¡’“‚µ§√µ‘¬ß—‰¡‡àª≈¬Ë’π·ª≈ß ¡√’–¥∫— trans- °“√ÕπË◊ Ê ‡™πà °“√µ√«® SI, TIBC, √–¥∫— ferritin
ferrin receptor (TfrR) ‡æË‘¡¢È÷π reticulocyte ‡ªπìµπâ
hemoglobin content (CHr) ≈¥≈߇πÕ◊Ëß®“°‡¡¥Á ç°“√∑¥ Õ∫∑Ë’¥’∑’Ë ÿ¥«à“ºâŸªÉ«¬¡’¿“«–¢“¥
‡≈Õ◊ ¥·¥ß∑ Ë’√“âߢπ÷È„À¡¢à“¥∏“µ‡ÿÀ≈°Á ∏“µ‡ÿÀ≈°ÁÀ√Õ◊‰¡à§Õ◊ºªŸâ«É¬À“¬®“°¿“«–‚≈Àµ‘®“ß
3. Frank iron deficiency anemia ¡’ ·≈–Õ“°“√µ“àßÊ¥¢’πÈ÷‡¡Õ◊ˉ¥√â∫—∏“µ‡ÿÀ≈°Á∑¥·∑πé
¿“«–‚≈Àµ‘®“ß‚¥¬Œ‚’¡‚°≈∫π‘µ”Ë≈ß°«à“§à“ª°µ‘µ“¡
Õ“¬ÿ‡¡¥Á‡≈Õ◊ ¥·¥ß¡¢’𓥇≈°Á (microcytosis) µ¥‘ °“√«‘π®‘©¬—·¬°‚√§
 ’®“ß (hypochromia) ·≈–¡’¢π“¥·µ°µà“ß°—π 1. ‚√§∏“≈ —´‡’¡¬’
(anisocytosis) ‚¥¬„™√â–¬–‡«≈“π“π°«à“®–‡¢â“∂÷ß 2. Anemia of inflammation À√Õ◊ anemia
√–¬–πÈ’ of chronic disease
3. Lead poisoning
Õ“°“√·≈–Õ“°“√· ¥ß ¿“«–‚≈Àµ‘®“ß®“°°“√¢“¥∏“µ‡ÿÀ≈°ÁπÕ°®“°

¡°—®–‰¡‡à©æ“–‡®“–®ß ¿“«–¢“¥ÕÕ°´‡‘®π®“° °“√´—°ª√–«—µ‘·≈–°“√µ√«®√à“ß°“¬·≈â« °“√
¿“«–‚≈À‘µ®“ß∑”„À⇰‘¥Õ“°“√ÕàÕπ‡æ≈’¬ „® Ë—π «‘π‘®©—¬·¬°‚√§„π°≈àÿ¡ microcytic anemia ‚¥¬
‡«’¬π»’√…– ¡’º≈°√–∑∫µàÕ°“√‡®√‘≠‡µ‘∫‚µ·≈– „™ºâ ≈°“√µ√«®∑“ßÀÕâߪØ∫‘µ—°‘“√  “¡“√∂·¬°‚√§
æ—≤π“°“√∑“ß µ‘ªí≠≠“„π‡¥Á°10 „π∑“√°¡’Õ“°“√ ®“°‚√§ ∏“≈ —´‡’¡¬’·≈– anemia of inflammation/
µ°„®ßà“¬ Àßÿ¥Àß‘¥ ´÷¡ ¡’§«“¡∫°æ√àÕß„π°“√ chronic disease µ“¡µ“√“ß∑Ë’11.2  ”À√∫— lead
‡®√‘≠·≈–æ—≤𓧫“¡ “¡“√∂¢Õß°≈â“¡‡πÈ◊Õ„π¥â“π poisoning ´ß÷Ë¡°—‡°¥‘√«à¡°∫—¿“«–¢“¥∏“µ‡ÿÀ≈°Á ®–
motor ·≈– co-ordination  à«πÕ“°“√ pica, ¡’¢âÕ —߇°µ (hallmark) §◊Õ free erythrocyte
atrophic glossitis, koilonychia, anorexia æ∫ portoporphyrin (FEP) ‡æ¡‘Ë¢π÷Ƞߟ¡“°

¿“«–‚≈Àµ‘®“ß®“°°“√¢“¥ “√Õ“À“√ Nutritional Anemia 169

°“√√°—…“9 ·∫∫√∫—ª√–∑“π 4-6 ¡°./°°./«π— ¢Õß elemental
1. À“ “‡Àµÿ¢Õß°“√¢“¥∏“µÿ‡À≈Á° ·≈– iron ‡ªπ쇫≈“ 3-4 ‡¥Õ◊ π9

√°—…“∑ Ë’“‡Àµÿ 3. °“√„Àâ‡≈◊Õ¥‰¡à®”‡ªìπ„π°“√√—°…“¿“«–
2. „À∏⓵‡ÿÀ≈°Á∑¥·∑π (iron supplement) ‚≈À‘µ®“ß®“°°“√¢“¥∏“µÿ‡À≈Á° ¬°‡«âπ„π°√≥’∑Ë’¡’

µ“√“ß∑Ë’11.2 °“√«‘π‘®©—¬·¬°¿“«–‚≈À‘µ®“ß®“°°“√¢“¥∏“µÿ‡À≈Á° ‚√§∏“≈— ´’‡¡’¬ ·≈–¿“«– anemia
of chronic disease ‚¥¬°“√µ√«®∑“ßÀÕâߪØ∫‘µ—°‘“√

‚≈Àµ‘®“ß®“°°“√¢“¥ ‚√§∏“≈ —´‡’¡¬’ Anemia of chronic
∏“µ‡ÿÀ≈°Á disease

MCV µ”Ë¡“° µË”/µË”¡“° ª°µ/‘µË”
MCHC µ”Ë  ßŸ ª°µ/‘µË”
RDW  ßŸ¡“°  ßŸ/ ßŸ¡“° ª°µ‘
Reticulocyte Count µË”  ßŸ µ”Ë
PBS
Predominant cells Pencil cells Target, tear drop cells ‰¡¡à’
Spherocyte ‰¡¡à ’ ¡’ ‰¡¡à’
Polychromasia ‰¡¡à ’ ¡’ ‰¡¡à’
Poikilocytosis æ∫ æ∫¡“° ‰¡¡à ’
Ferritin µ”Ë¡“°
SI µË”¡“°  ßŸ  ßŸ
TIBC  ßŸ¡“°
%TS µ”Ë¡“° ª°µ‘ µË”
TfR  ßŸ¡“°
CHr µË”¡“° ª°µ‘ µ”Ë
Hepcidin µ”Ë¡“°
FEP  ßŸ ª°µ‘ ª°µ/‘µ”Ë
 ßŸ/ ßŸ¡“° ª°µ‘

µ”Ë/ª°µ‘ ª°µ‘

µ”Ë/µË”¡“°  ßŸ¡“°
ª°µ‘  ßŸ

TIBC = total iron-binding capacity, TS = transferrin saturation, TfR = transferrin receptor,
CHr = reticulocyte hemoglobin content, FEP = free erythrocyte protoporphyrin,
SI = serum iron, PBS = peripheral blood smear, MCV = mean corpuscular volume,
MCHC = mean corpuscular hemoglobin concentration, RDW = red cell distribution width

170 ™“≈π‘’¡πµå‡ √π’ÿ √≥å

Õ“°“√´¥’Õ¬“àß√πÿ·√ß ‡™πà À«—„®«“¬ ·≈–µÕâß¡°’“√ (reticulocytosis) ‚¥¬®–‡æ‘Ë¡¡“°∑Ë’ ÿ¥„π™à«ß
„À∏⓵‡ÿÀ≈°Á·∫∫√∫—ª√–∑“π‡ √¡‘µÕà‡πÕË◊ ßµÕà‰ª 5-7 «—π ´÷Ëß “¡“√∂„™âµ‘¥µ“¡°“√µÕ∫ πÕߢÕß
4. °“√„À∏⓵‡ÿÀ≈°Á·∫∫©¥’‡¢“âÀ≈Õ¥‡≈Õ◊ ¥¥” °“√√—°…“‰¥âµÕà¡“√–¥—∫¢Õߌ’‚¡‚°≈∫‘π®–‡æ‘Ë¡¢È÷π
„À⇩擖°√≥’∑Ë’‰¡àµÕ∫ πÕßµàÕ°“√√—°…“¥â«¬°“√ „π 4-30 «π— ·≈–„π 1-3 ‡¥Õ◊ πÀ≈ß—°“√√°—…“ ®–
„À∏⓵‡ÿÀ≈°Á√∫—ª√–∑“π À√Õ◊ ‰¡ à“¡“√∂√∫—ª√–∑“π ¡’°“√‡°Á∫ – ¡∏“µÿ‡À≈Á°„π‡πÈ◊Õ‡¬Ë◊Õ ∑”„Àâ√–¥—∫
∏“µÿ‡À≈Á°‰¥â‡π◊ËÕß®“°º≈¢â“߇§’¬ß ‡™àπ irritable ferritin ‡æ¡‘Ë¡“°¢πÈ÷4
bowel disease À√◊Õ celiac disease À√◊Õ‡ªìπ °“√∑‰’Ë¡µàÕ∫ πÕßµÕà°“√√°—…“¥«â¬°“√„À∏⓵ÿ
functional iron deficiency À√Õ◊ iron-refractory ‡À≈Á°‡ √‘¡∑¥·∑π∑Ë’æ∫‰¥â∫àÕ¬∑Ë’ ÿ¥ §◊Õ ‡°‘¥®“°
iron deficiency anemia (IRIDA) ∑’ˇ°‘¥®“° °“√‰¡à√—∫ª√–∑“𬓠‡π◊ËÕß®“°º≈¢â“߇§’¬ßÀ≈“¬
§«“¡º‘¥ª°µ‘∑“ßæ—π∏ÿ°√√¡ §◊Õ¡’°“√°≈“¬æ—π∏ÿå∑’Ë ª√–°“√∑’ˉ¥â°≈à“«¡“·≈â« À√◊պ⟪ɫ¬√—∫ª√–∑“π¬“
TMPRSS613 ‰¡à∂Ÿ°«‘∏’‡™àπ √—∫ª√–∑“πÀ≈—ßÕ“À“√ √—∫ª√–∑“π
°“√√—°…“°“√¢“¥∏“µÿ‡À≈Á° √—°…“‰¥â‡æ’¬ß æ√âÕ¡π¡ À√◊Õ√—∫ª√–∑“π¬“≈¥°√¥√à«¡¥â«¬ ´Ë÷ß
¿“«–‚≈Àµ‘®“߇∑“àππÈ— ‰¡ à“¡“√∂∑”„Àâmental ·≈– ∑”„Àâ°“√¥Ÿ¥´÷¡¬“‰¡à¥’‡∑à“∑Ë’§«√ √Õß≈ß¡“§◊Õ √—∫
motor development ∑Ë’º‘¥ª°µ‘‰ª·≈â«°≈—∫ ª√–∑“π¬“º‘¥¢π“¥À√◊Õº‘¥™π‘¥ À√◊Õ°“√«‘π‘®©—¬
¡“‡ªìπª°µ‘‰¥â ·≈–°“√√—∫ª√–∑“πÕ“À“√∑’Ë¡’∏“µÿ ‚√§‰¡à∂Ÿ°µâÕß ‡™àπºâŸªÉ«¬Õ“®®–‡ªìπ‚√§∏“≈— ´’‡¡’¬
‡À≈°Á ßŸ  “¡“√∂ªÕÑß°π—¿“«–¢“¥∏“µ‡ÿÀ≈°Á‰¥â·µà anemia of chronic disease À√Õ◊ lead poisoning
‰¡à “¡“√∂∑¥·∑π °“√„Àâ∏“µÿ‡À≈Á°‡ √‘¡∑¥·∑π À√◊Õ¡’°“√µ‘¥‡™È◊ÕÀ√◊Õ¡’°“√Õ—°‡ ∫æ∫√à«¡¥â«¬°—∫
(iron supplement) „π°√≥’∑’Ë¡’¿“«–‚≈À‘µ®“ß °“√¢“¥∏“µÿ‡À≈Á° À√◊Õ¡’¿“«–‡≈◊Õ¥ÕÕ°√à«¡¥â«¬
®“°°“√¢“¥∏“µ‡ÿÀ≈°Á‰¥â ºªâŸ«É¬∑¡Ë’°’“√¥¥Ÿ´¡÷∏“µ‡ÿÀ≈°Á∑º’Ë¥‘ª°µæ‘∫‰¥πâÕ⬡“°
º≈¢â“߇§’¬ß¢Õß°“√„Àâ∏“µÿ‡À≈Á°∑¥·∑π
æ∫‰¥â∫àÕ¬ ‡™àπ Õÿ®®“√–¥” øíπ¥” √ ™“µ‘‰¡à¥’ §”·π–π”„π°“√ªÕÑß°π—¿“«–‚≈Àµ‘®“ß®“°°“√
√—∫ª√–∑“𬓰 ·≈– √–§“¬‡§◊Õß°√–‡æ“–Õ“À“√ ¢“¥∏“µ‡ÿÀ≈°Á7,14
¥—ßπ—Èπ®÷ß·π–π”„Àâ√—∫ª√–∑“π°àÕππÕπ ‡πË◊Õß®“° 1. ‰¡§à«√√∫—ª√–∑“ππ¡««—°ÕàπÕ“¬ÿ1 ªï
∑âÕß«à“ß·≈–‡ªìπ‡«≈“πÕπ °“√√–§“¬‡§◊Õß°√–‡æ“– 2. „Àâπ¡·¡àÕ¬à“߇¥’¬«„π™à«ß 6 ‡¥◊Õπ·√°
Õ“À“√®–≈¥≈ß ·≈–√—∫ª√–∑“π√à«¡°—∫«‘µ“¡‘π´’ ·µ∂à“≡¡àπ’¡·¡„àÀ‡â √¡‘¥«â¬ iron-fortified formula
‡æÕ◊Ë°√–µπÿâ °“√¥¥Ÿ´¡÷∏“µ‡ÿÀ≈°Á ·≈–„À√â∫—ª√–∑“ππ¡·¡®àπÕ“¬ÿ12 ‡¥Õ◊ π
°“√µÕ∫ πÕßµÕà°“√√°—…“ À≈ß—®“°°“√„Àâ 3. „π‡¥°ÁÕ“¬¡ÿ“°°«“à 6 ‡¥Õ◊ π„À‡â√¡‘ËÕ“À“√
∏“µ‡ÿÀ≈°Á‡ √¡‘∑¥·∑π¿“¬„π 24 ™«Ë—‚¡ß®–‡√¡‘ˇÀπÁ ‡ √¡‘ (semisolid food) ∑¡Ë’’iron-enriched À√Õ◊
§«“¡‡ª≈’ˬπ·ª≈ß‚¥¬ºâŸªÉ«¬®–¡’§«“¡Õ¬“°Õ“À“√ „À∏⓵‡ÿÀ≈°Á‡ √¡‘ 1 ¡°./°°./«π—
‡æË‘¡¢È÷π®“°°“√∑’Ëintracellular iron enzymes 4. „π‡¥Á°Õ“¬ÿ¡“°°«à“ 1 ªï„Àâ®”°—¥π¡«—«
‡æ¡Ë‘¢π÷È ≈¥°“√°√– ∫—°√– “ଠ¿“¬„π 36-48 ™«Ë—‚¡ß „πª√¡‘“≥ 18-24 ÕÕπ´µåÕà«π—
®–¡’erythroid hyperplasia „π‰¢°√–¥°Ÿ „π 48-72
™Ë—«‚¡ß  ‘Ëß·√°∑Ë’®–¡’°“√‡ª≈’ˬπ·ª≈ß∑“ßÀâÕß Megaloblastic anemia
ªØ‘∫—µ‘°“√ §◊Õ reticulocyte count ®–‡æË‘¡¢È÷π ¿“«– megaloblastic anemia ‡ªì𧫓¡

¿“«–‚≈Àµ‘®“ß®“°°“√¢“¥ “√Õ“À“√ Nutritional Anemia 171

º‘¥ª°µ‘∑’ˇ°‘¥®“°°“√‰¡à “¡“√∂ √â“ß DNA „π °‰Á¥1â5 ¥ß—· ¥ß„π√ªŸ∑’Ë11.2
‰¢°√–¥°Ÿ ®ß÷∑”„À°â“√ √“â߇´≈≈µå“àßÊ „π‰¢°√–¥°Ÿ ¬“‡§¡∫’”∫¥—∫“ßµ«— ‡™πà methotrexate ®–
‚¥¬‡©æ“–‡¡Á¥‡≈◊Õ¥·¥ßº‘¥ª°µ‘ ‚¥¬æ∫«à“‡¡Á¥ ‰ª¬—∫¬È—ß DNA synthesis ‡æË◊Õ∑”≈“¬‡´≈≈å¡–‡√Áß
‡≈◊Õ¥·¥ß¢π“¥„À≠à°«à“ª°µ‘·µàº‘¥‚§√ß √â“߉ª∑Ë’ §◊Õ°“√¬—∫¬È—ß enzyme dihydrofolate reductase
‡√’¬°«à“ megaloblastic dyspoiesis ∑”„À⇡Á¥ ∑”„À⬗∫¬È—ß°“√·∫àßµ—«¢Õ߇´≈≈å„π√à“ß°“¬ ®÷ß∑”„Àâ
‡≈Õ◊ ¥·¥ß„π‰¢°√–¥°Ÿ¡≈’°—…≥–懑»…§Õ◊ ¡’nuclear √à“ß°“¬‡°‘¥¿“«–¢“¥‚ø‡≈µ ∂â“ —߇°µ¥Ÿ®–æ∫«à“
maturation defect ‚¥¬°“√‡®√‘≠‡µ‘∫‚µ√–À«à“ß ºŸâªÉ«¬∑Ë’‰¥â√—∫¬“¥—ß°≈à“« ®–¡’¿“«– macrocytic
nucleus ·≈– cytoplasm ¢Õ߇¡Á¥‡≈◊Õ¥·¥ß‰¡à‰ª anemia √«à¡¥«â¬
¥«â¬°π— §Õ◊ æ∫≈°—…≥– nucleus ‡ªπì√ÊŸ §Õ◊ Õ“¬ÿ
ÕàÕπ°«à“ cytoplasm ∑’˵‘¥ ’ÕÕ°„ Ê ∑’Ë¥Ÿ·°à°«à“ °“√ √“âß·≈–°“√¥¥Ÿ´¡÷ cobalamin À√Õ◊«µ‘“¡π‘
‡√¬’°«“à nuclear-cytoplasmic asynchrony ·≈– ∫’12
‡¡Á¥‡≈◊Õ¥·¥ß∂Ÿ°∑”≈“¬¡“°¢È÷π‡π◊ËÕß®“°°“√ √â“ß∑Ë’ «µ‘“¡π‘∫’12 À√Õ◊ ∑‡’Ë√¬’°«“àcobalamin (Cbl)
º¥‘ª°µ‘∑”„À¡â¿’“«–‚≈Àµ‘®“ß√«à¡°∫—‡¡¥Á‡≈Õ◊ ¥¢“« ®–¡¡’“°„πÕ“À“√®”æ«°‡πÕ◊È µ—«·å≈–π¡ ∑“√°·√°
·≈–‡°≈¥Á‡≈Õ◊ ¥µ”Ë (pancytopenia) µ“¡¡“  “‡Àµÿ ‡°¥‘®–‰¥√â∫—«µ‘“¡π‘∫’12 º“àπ√°®“°¡“√¥“ ¥ß—ππ—È
à«π„À≠à‡°‘¥®“°°“√¢“¥‚ø‡≈µ ·≈– cobalamin ∂“â¡“√¥“¢“¥«µ‘“¡π‘∫’12 ∑“√°°®Á–¢“¥µ“¡ ‰ª¥«â¬
À√Õ◊ «µ‘“¡π‘∫’1215 «‘µ“¡‘π∫’12 ®–∂Ÿ°¥Ÿ¥´÷¡‰¥â¥’„π ¿“«–∑Ë’‡ªìπ°√¥
‚¥¬®–®∫—°∫— R protein ∑ Ë’√“âß®“°°√–‡æ“–Õ“À“√
°“√ √â“ß·≈–°“√¥Ÿ¥´÷¡‚ø‡≈µ (metabolism ·≈– haptocorrin (HC) ∑’Ë √â“ß®“°µàÕ¡π”È≈“¬
of folate) ·≈–µÕà¡∫√‡‘«≥À≈Õ¥Õ“À“√ ‡æÕË◊ æ“ «µ‘“¡π‘∫’12

‚ø‡≈µ¡„’πÕ“À“√®”æ«°º°—„∫‡¢¬’«·≈–º≈‰¡â ‡§≈Õ◊Ëπº“àπ∑“߇¥π‘Õ“À“√‰ª ®“°ππÈ— «µ‘“¡π‘∫’12 ®–
π¡·æ–®–¡’‚ø‡≈µπâÕ¬°«à“π¡«—« ‡¥Á°∑’˧≈Õ¥°àÕπ ∂°Ÿ·¬°ÕÕ°®“° haptocorrin ·≈– R protein ‚¥¬
°”Àπ¥®–¡’‚ø‡≈µ – ¡≈¥≈ß°«à“ª°µ‘‚ø‡≈µ®– Õ“»¬— enzyme protease ®“°µ∫—ÕÕàπ ·≈–«µ‘“¡π‘
∂°Ÿ¥¥Ÿ´¡÷∑≈’Ë”‰ ‡â≈°Á «àπµπâ (proximal jejunum) ∫’12 ®–®∫—°∫— intrinsic factor (IF) ∑ ’Ë√“âß®“°
·≈–®–‡ª≈’ˬπ‡ªìπ dihydrofolate ·≈–‡ª≈’ˬπ parietal cell „π°√–‡æ“–Õ“À“√ ∑Ë’proximal
‡ªìπ tetrahydrofolate (THF) ‚¥¬ enzyme ileum ∑”„À≡à∂Ÿ°¬àÕ¬ ≈“¬‚¥¬ enzyme ∑Ë’¬àÕ¬
dihydrofolate reductase À≈ß—®“°ππÈ—®–‡ª≈¬Ë’π‡ªπì  ≈“¬‚ª√µ’π ®“°ππÈ— «µ‘“¡π‘∫’12 ®–∂Ÿ°¥¥Ÿ´¡÷∑’Ë
active folate ∑Ë’¡’§«“¡ ”§—≠„π°“√∑”„À⇴≈≈å terminal ileum ‡¢â“ Ÿàenterocyte µ√ßµ”·Àπàß
„π√à“ß°“¬¡’°“√·∫àßµ—« ´Ë÷ß«‘µ“¡‘π∫’12 ®–‡ªìπ CUBAM receptor ®“°πÈ—π intrinsic factor
cofactor „π°“√ √“âß‚ø‡≈µ ∑”„À‡âª≈¬’Ëπ homocys- ®–∂°Ÿ∑”≈“¬‡À≈Õ◊ ‡æ¬’ß«µ‘“¡π‘∫’12 °“√𔫵‘“¡π‘
teine ‡ªìπ methionine ¥—ßπ—Èπ megaloblastic ∫’12 „π°√–· ‡≈Õ◊ ¥‰ª¬ß—Õ«¬—«–µ“àßÊ ®”‡ªπìµÕâß
anemia ∑‡Ë’°¥‘®“°°“√¢“¥«µ‘“¡π‘∫’12 ®–∑”„À¡â’ Õ“»—¬µ—«æ“ ((TtCra)n1s6p¥oß—rt·e r¥pß„rπo√teªŸi∑nË’)11§.3◊Õ trans-
°“√¢“¥‚ø‡≈µ√à«¡¥â«¬ ·≈–Õ“°“√®÷߇°‘¥®“°°“√ cobalamin
¢“¥‚ø‡≈µ‡ªìπÀ≈—° „π∑“ßµ√ß°—π¢â“¡ ∂â“√à“ß°“¬ «µ‘“¡π‘∫’12 πÕ°®“°®–‡ªπì cofactor „π°“√
¢“¥‚ø‡≈µ Õ“®®–¢“¥À√◊Õ‰¡à¢“¥«‘µ“¡‘π∫’12 √“âß‚ø‡≈µ·≈«â „π°√–∫«π°“√ metabolism ¢Õß

172 ™“≈π‘’¡πµå‡ √π’ ÿ√≥å

√ªŸ∑’Ë11.2 °“√ √“âß·≈–°“√¥¥Ÿ´¡÷‚ø‡≈µ (¥¥—·ª≈ß®“°‡Õ° “√Õ“âßÕß‘À¡“¬‡≈¢ 15)

«µ‘“¡π‘∫’12 ‡Õß°¡Á§’«“¡ ”§≠—Õ¬“à߬ߑ˄π¢∫«π°“√  “‡Àµÿ¢Õß°“√‡°‘¥ megaloblastic anemia17
Krebûs cycle ‡æ◊ËÕ √â“߇´≈≈å «‘µ“¡‘π∫’12 ·∫ßàÕÕ°‡ªπì
®–∑”ß“π√à«¡°—∫ enzyme homocysteine 1. ¿“«–¢“¥‚ø‡≈µ
methyltransferase ∑’Ë®–‡ª≈’ˬπ homocysteine
‡ªìπ methionine ·≈–∑”ß“π√à«¡°—∫ enzyme 1.1 ‰¥â√—∫‚ø‡≈µ≈¥≈ß : √—∫ª√–∑“πÕ“À“√
methylmalonyl CoA mutase ∑Ë’®–‡ª≈’Ë¬π ‰¥â≈¥≈ß ‡™àπ ºâŸ ŸßÕ“¬ÿºâŸ∑’Ë¥Ë◊¡·Õ≈°ÕŒÕ≈凥Á°
methylmalonyl CoA ‡ªπì succinyl CoA ∑®’Ë– ∑“√°∑’˧≈Õ¥°àÕπ°”Àπ¥ ‡¥Á°∑Ë’¥Ë◊¡π¡·æ– ·≈–
‡¢“â °Ÿà√–∫«π°“√ Krebûs cycle µÕà‰ª ¥ß—ππ—È°“√¢“¥ °“√‰¡√à∫—ª√–∑“πº°—„∫‡¢¬’«
«µ‘“¡π‘∫’12 ®ß÷∑”„À¡â°’“√‡æ¡Ë‘¢πÈ÷¢Õß homocys-
teine ∑”„À‡â°¥‘¿“«–≈¡‘ˇ≈Õ◊ ¥Õ¥ÿµπ— ·≈–¡°’“√≈¥≈ß 1.2 °“√¥¥Ÿ´¡÷º¥‘ª°µ‘(malabsorption) :
¢Õß√–¥∫— methionine „π°√–· ‡≈Õ◊ ¥ ¥ß—· ¥ß„π ∑Õâ߇ ¬’‡√Õ◊È√ß—°“√µ¥—≈”‰  â«àπ jejunum
√Ÿª∑Ë’11.2 ∑Ë’‡ªìπ à«π ”§—≠„π°“√ √â“ß choline
·≈– phospholipid ∑„Ë’™âcholine ‡ªπ쵫—ª√–°Õ∫ 1.3 §«“¡µÕâß°“√‚ø‡≈µ¡“°¢π÷È : ¿“«–µß—È
∑”„À⇰‘¥¿“«– demyelination µ“¡¡“ ´Ë÷߇ªìπ §√√¿å‚≈À‘µ®“ß®“°‡¡Á¥‡≈◊Õ¥·¥ß∂Ÿ°∑”≈“¬ ·≈–
Õ“°“√∑“ß√–∫∫ª√– “∑∑’Ë®–æ∫„π°√≥’∑’Ë¢“¥ exfoliative dermatitis
«µ‘“¡π‘∫’12 ‡∑“àππÈ— ·µ‰à¡æà ∫„π¿“«–¢“¥‚ø‡≈µ
1.4  ≠Ÿ‡ ¬’‚ø‡≈µ : °“√≈“â߉µ (dialysis)
1.5 ¬“∑¬’Ë∫—¬ß—È°“√∑”ß“π¢Õß‚ø‡≈µ:metho-
trexate, azathioprine, cyclophosphamide,
cytosine arabinoside, hydroxyurea, mercap-
topurine, sulfamethoxazole-trimethoprim,
pyrimethamine ·≈–¬“°π—™°—µ“àßÊ18

¿“«–‚≈Àµ‘®“ß®“°°“√¢“¥ “√Õ“À“√ Nutritional Anemia 173

H+ = acid in stomach, Cbl = cobalamin, HC = hapatocorrin, IF = intrinsic factor, TC = transcobalamin
√ªŸ∑Ë’11.3 °“√¥¥Ÿ´¡÷ °“√¢π ßà ·≈– cellular uptake ¢Õß«µ‘“¡π‘∫’12 (cobalamin)
(¥¥—·ª≈ß®“°‡Õ° “√Õ“âßÕß‘À¡“¬‡≈¢ 16)

2. ¿“«–¢“¥«µ‘“¡π‘∫’12 (cobalamin) À√Õ◊ autoimmune disease ∑”„À¡â’autoantibody
2.1 √∫—ª√–∑“𫵑“¡π‘∫’12 ≈¥≈ß ‡™πà §π µÕà intrinsic factor18 À√Õ◊ ¿“«–¢“¥§«“¡‡ªπì°√¥
∑’Ë√—∫ª√–∑“π¡—ß «‘√—µ‘§π∑Ë’‰¡à√—∫ª√–∑“π‡π◊ÈÕ —µ«å ‡™πà acrohydria
·≈–π¡ ë ≈”‰ ‡â≈°Á «àπª≈“¬ (terminal ileum) :
2.2 ∑“√°∑¡Ë’“√¥“¢“¥«µ‘“¡π‘∫’12 ¡’°“√µ—¥ terminal ileum ·≈– short bowel
2.3 °“√¥¥Ÿ´¡÷º¥‘ª°µ‘ syndrome
ë °√–‡æ“–Õ“À“√ : pernicious anemia ®“° ë µ—∫ÕàÕπ : ºŸâªÉ«¬∑’Ë¡’¿“«–§«“¡º‘¥ª°µ‘
°“√¢“¥ intrinsic factor ∑ß—È∑‡’˪πì·µ°à”‡π¥‘ À√Õ◊ ¢Õßµ∫—ÕÕàπ (pancreatic insufficiency)
‡°¥‘∑À’≈ß—®“°°“√µ¥—°√–‡æ“–Õ“À“√ (gastrectomy) 2.4 °“√¢π ß૵‘“¡π‘∫’12 º¥‘ª°µ‘(trans-

174 ™“≈π‘’¡πµ‡å √π’ÿ √≥å

portation abnormal) ‡™πà TC deficiency µà“ßÊ ∂¥∂Õ¬ (regression) Õ“°“√∑“ß√–∫∫
2.5 °“√„™¬â“ : ¬“≈¥°√¥ ·≈– proton pump ª√– “∑Õ“®‡°‘¥‰¥â„π¢≥–∑Ë’º≈‡≈◊Õ¥¢Õߧπ‰¢âÕ¬àŸ
inhibitors „π‡°≥±ªå °µ‘
4. Õ“°“√∑“ߺ«‘Àπß— : ª√–¡“≥√âÕ¬≈– 10
Õ“°“√·≈–Õ“°“√· ¥ß¢Õß¿“«– megaloblastic ¢ÕߺªŸâ«É¬®–¡√’Õ¬¥” (hyperpigmentation) ·≈–
anemia15 ºâŸªÉ«¬ pernicious anemia ∫“ß√“¬®–¡’¥à“ߢ“«
°“√¢“¥«µ‘“¡π‘∫’12 (vitiligo)17
1. Õ“°“√∑“ß‚≈À‘µ«‘∑¬“ : ‡°‘¥¿“«–‚≈À‘µ 5. ¿“«–≈¡Ë‘‡≈Õ◊ ¥Õ¥ÿµπ— : ®“°¿“«– hyper-
®“ß17 ¡’Õ“°“√ÕàÕπ‡æ≈’¬ Àπâ“¡◊¥ ∫“ߧ√È—ß¡’®È” homocysteinemia Õ“°“√µ“àßÊ ‚¥¬‡©æ“–Õ“°“√
‡≈Õ◊ ¥ ®¥ÿ‡≈Õ◊ ¥ÕÕ°®“°¿“«–‡°≈¥Á‡≈Õ◊ ¥µ”ˉ¥â ∑“ß√–∫∫ª√– “∑®–„™√â–¬–‡«≈“ª√–¡“≥ 3-6 ª°ï«“à
2. Õ“°“√∑“ß√–∫∫∑“߇¥π‘Õ“À“√ : ®“°°“√ ®–‡°¥‘Õ“°“√
√â“ß epithelium ¢Õß∑“߇¥‘πÕ“À“√‡ ’¬‰ª ‡™àπ
≈‘Èπ‡≈Ë’¬π·¥ß (smooth and beefy tongue) ¡’ °“√¢“¥‚ø‡≈µ
Õ“°“√∑Õâ߇ ¬’∑‡Ë’°¥‘®“°°“√¥¥Ÿ´¡÷Õ“À“√‡ ¬’‰ª ºŸâªÉ«¬∑Ë’¢“¥‚ø‡≈µ®–æ∫Õ“°“√∑“ß√–∫∫
3. Õ“°“√∑“ß√–∫∫ª√– “∑ : ‡√‘Ë¡·√°®–¡’ ∑“߇¥‘πÕ“À“√§≈⓬°—∫∑Ë’‡°‘¥„π¿“«–¢“¥«‘µ“¡‘π
Õ“°“√™“ª≈“¬¡Õ◊ ª≈“¬‡∑“â(peripheral neuropathy) ∫’12 ·µÕà“°“√®–√πÿ·√ß°«“à ·≈–Õ“°“√∑Õâ߇ ¬’®–
ÕÕàπ·√ß ‡¥π‘‡´ ∑æ’ˬ“∏ ‘¿“懰¥‘®“° demyelination æ∫‰¥â∫àÕ¬°«à“ ·µà®–‰¡à¡’Õ“°“√∑“ß√–∫∫ª√– “∑
¢Õß dorsal ·≈– lateral column ¢Õß spinal cord ·≈–¿“«–≈Ë‘¡‡≈◊Õ¥Õÿ¥µ—π∑’Ëæ∫‰¥â„π¿“«–¢“¥
µàÕ¡“‡°‘¥ axonal degeneration ®π„π∑’Ë ÿ¥‡ªìπ «‘µ“¡‘π∫’12 ·≈–‡°‘¥¿“«– pancytopenia ‰¥â
Õ“°“√∑‰Ë’¡ à“¡“√∂°≈∫—§π◊ ‰¥â(irreversibleprocess) ‚¥¬®–„™â√–¬–‡«≈“‡ªìπ‡¥◊Õπ„π°“√∑”„À⇰‘¥Õ“°“√
Õ“®¡°’“√À≈ß≈¡◊ (dementia) °“√‡¥π‘º¥‘ª°µ‘¡’ ¥—ß°≈à“« ´Ë÷ß È—π°«à“°“√‡°‘¥Õ“°“√„π¿“«–¢“¥
ª√– “∑À≈Õπ17 À√◊Õ„π‡¥Á°®–¡’æ—≤π“°“√¥â“π «µ‘“¡π‘ ∫’12

√ªŸ∑’Ë11.4  ‡¡¬’√剢°√–¥°Ÿ¢ÕߺªâŸ«É¬ megaloblastic anemia æ∫≈°—…≥–¢Õß megaloblastoid change
of erythroid series, nuclear-cytoplasmic asynchrony ·≈– giant band neutrophils

¿“«–‚≈À‘µ®“ß®“°°“√¢“¥ “√Õ“À“√ Nutritional Anemia 175

°“√«π‘®‘©¬— megaloblastic anemia ‚¥¬ √ÿª megaloblastic anemia ®–¡’°“√

1. CBC µ√«®∑“ßÀÕâߪØ∫‘µ—°‘“√∑æË’∫‚¥¬ √ªÿ¥ß—µ“√“ß∑’Ë11.3
æ∫¡’macrocytic anemia: ‚¥¬ PBS
æ∫ macrocytosis, anisocytosis, poiki- °“√√°—…“ megaloblastic anemia
locytosis, carbot ring, howell-jolly body ·≈– °“√√°—…“∑‰Ë’¥ºâ≈ ª√–°Õ∫¥«â¬
æ∫ hypersegmented neutrophil (lobes ¡“° 1. √°—…“∑ Ë’“‡Àµÿ
°«“à 5 lobes)19 2. „À«âµ‘“¡π‘∫’12 ·≈–‚ø‡≈µ∑¥·∑π
‡¡¥Á‡≈Õ◊ ¥¢“«µË” ·≈–‡°≈¥Á‡≈Õ◊ ¥µË” 3. ª√∫—Õ“À“√∑√Ë’∫—ª√–∑“π‡ªπì folateriched-
2. °“√‡®“–‰¢°√–¥°Ÿ®–æ∫‡´≈≈å¥ß—√ªŸ∑’Ë11.4 food ‡™àπ º—°„∫‡¢’¬« º≈‰¡âÀ≈’°‡≈Ë’¬ßπ¡·æ–
·≈–√∫—ª√–∑“πÕ“À“√∑¡’Ë«’µ‘“¡π‘∫’12 ‡™πà‡πÕÈ◊  µ—«å
°“√¢“¥«µ‘“¡π‘∫’12 æ∫°“√µ√«®∑“ßÀÕâߪØ∫‘µ—‘ π¡««—
°“√∑®Ë’”‡æ“–20 ¥ß—πÈ’ 4. µ¥‘µ“¡Õ“°“√·≈– CBC Õ¬“àß„°≈™â¥‘
1. √–¥∫—«µ‘“¡π‘∫’12 „π‡≈Õ◊ ¥πÕ⬰«“à 200
æ‘‚§°√—¡/¡≈.19 °“√µÕ∫ πÕßµàÕ°“√√°—…“

2. √–¥∫— homocysteine „π‡≈Õ◊ ¥‡æ¡‘Ë¢πÈ÷ : À≈—ß®“°°“√„Àâ«‘µ“¡‘π∫’12 À√◊Õ‚ø‡≈µ
sensitivity  ßŸ·µàspecificity µ”Ë ‡ √‘¡∑¥·∑π¿“¬„π 6 ™Ë—«‚¡ß ‡¡Á¥‡≈◊Õ¥·¥ß„π‰¢
3. √–¥∫— methylmalonic acid (MMA) „π °√–¥°Ÿ®–‡ª≈¬’Ëπ·ª≈ß®“°¢π“¥∑„Ë’À≠¢àπÈ÷ (megalo-
‡≈Õ◊ ¥‡æ¡Ë‘¢πÈ÷ : sensitivity ·≈– specificity  ßŸ19 blastic) °≈∫—¡“‡ªπì¢π“¥ª°µ‘·≈–¿“¬„π 48 ™«—Ë‚¡ß
4. √–¥∫— methionine „π‡≈Õ◊ ¥≈¥≈ß Õ“°“√∑“ß√–∫∫ª√– “∑ ‡™à𠧫“¡√Ÿâµ—«·≈–°“√
5. Intrinsic factor antibodies µÕ∫ πÕß®–¥’¢È÷πÕ¬à“ß™—¥‡®π„π√“¬∑’Ë¡’°“√¢“¥
6. „π°√≥∑’ Ë’ß ¬—¿“«– pernicious anemia : «‘µ“¡‘π∫’12 ¿“¬„π 72 ™—Ë«‚¡ß ‡¡Á¥‡≈◊Õ¥·¥ß„π
gastric analysis ·≈–°“√∑” Shilling test ´Ë÷ß ‰¢°√–¥Ÿ°®–¡’¢π“¥‡ªìπª°µ‘∑—ÈßÀ¡¥  ‘Ëß·√°∑’Ë®–¡’
ª®í®∫ÿπ—‰¡πà ¬‘¡·≈«â °“√‡ª≈¬’Ëπ·ª≈ß∑“ßÀÕâߪØ∫‘µ—°‘“√§Õ◊ reticulocyte
count ®–‡æ¡‘Ë¢πÈ÷°≈∫—¡“‡ªπ쪰µ‘¿“¬„π 2  ª—¥“Àå
°“√¢“¥‚ø‡≈µ æ∫°“√µ√«®∑“ßÀâÕߪؑ∫—µ‘°“√∑Ë’ methylmalonic acid ·≈– homocysteine
®”‡æ“– ¥ß—π’È „π‡≈◊Õ¥®–≈¥≈ß„πºâŸªÉ«¬∑’Ë¢“¥«‘µ“¡‘π∫’12  à«π
1. √–¥∫—‚ø‡≈µ„π‡≈Õ◊ ¥πÕ⬰«“à4 π°./¡≈.19 ¿“«–‚≈À‘µ®“ß ·≈– pancytopenia ®–¥’¢È÷π„π
À√Õ◊ πÕ⬰«“à 6.8-9 π“‚π‚¡≈/≈µ‘√21 (∫ßà∫Õ°∂ß÷ ¿“¬„π 2-6  ª—¥“Àå·≈–®”π«π neutrophil lobes
√–¬–‡«≈“„π°“√¢“¥‚ø‡≈µ‡ªπì ®”π«π«π—) ®–≈¥≈ß¿“¬„π 4  ª—¥“Àå «àπæ≤— π“°“√∑º’Ë¥‘ª°µ‘
2. ‚ø‡≈µ„π‡¡¥Á‡≈Õ◊ ¥·¥ßπÕ⬰«“à 160 π°./ ®“°°“√¢“¥«‘µ“¡‘π∫’12 ®–‡√Ë‘¡¥’¢È÷π®π‡ªìπª°µ‘
¡≈. (¡§°./≈µ‘√) (∫ßà∫Õ°∂ß÷√–¬–‡«≈“„π°“√¢“¥ ®–„™√â–¬–‡«≈“‡ªπ쇥Õ◊ π ·µÕà“°“√∑“ߪ√– “∑∑‡Ë’ ¬’
‚ø‡≈µ‡ªπì®”π«π‡¥Õ◊ π) ‰ª·≈â« ‡™àπ IQ (intelligence quotient) ®–
∂°Ÿ∑”≈“¬Õ¬“àß∂“«√16

176 ™“≈π‘’¡πµ‡å √π’ÿ √≥å

¢âÕ§«√√–«—ß„π°“√„Àâ‚ø‡≈µ∑¥·∑π„πºâŸªÉ«¬ ∫∑ √ªÿ

megaloblastic anemia ¿“«–‚≈Àµ‘®“ß®“°°“√¢“¥ “√Õ“À“√‡ªπìÀπß÷Ë

„πºªŸâ«É¬∑¡’Ë¿’“«–°“√¢“¥«µ‘“¡π‘∫’12 ®–¡’ „𧫓¡º‘¥ª°µ‘∑’Ëæ∫‰¥â∫àÕ¬∑Ë’ ÿ¥∑“ß‚≈À‘µ«‘∑¬“
°“√¢“¥‚ø‡≈µ√à«¡¥â«¬ ¥—ßπÈ—π∂Ⓣ¥â√—∫°“√√—°…“ ºâŸªÉ«¬‡¥Á°∫“ß√“¬¢“¥ “√Õ“À“√À≈“¬™π‘¥ ∑”„Àâ
¥â«¬‚ø‡≈µ®–∑”„ÀâÕ“°“√∑“ß‚≈À‘µ«‘∑¬“¥’¢È÷π‰¥â °“√«‘π‘®©—¬¡’§«“¡¬àÿ߬“°¢È÷π ®”‡ªìπµâÕßÕ“»—¬∑È—ß
(hematologic response) ·µà®–∑”„ÀâÕ“°“√∑“ß °“√´—°ª√–«—µ‘µ√«®√à“ß°“¬ ·≈–°“√µ√«®∑“ß
√–∫∫ª√– “∑‡≈«≈ß∂“≡‰à¥√â∫—«µ‘“¡π‘∫’12 ∑¥·∑π ÀâÕߪؑ∫—µ‘°“√ ·≈– ‘Ëß ”§—≠§◊Õ°“√¥Ÿ‡ ¡’¬√å‡≈◊Õ¥
®÷ß®”‡ªìπ∑’˵âÕßµ√«®√–¥—∫«‘µ“¡‘π∫’12 °àÕπ∑ÿ° ®–∑”„Àâ°“√«‘π‘®©—¬·¬°‚√§·≈–°“√‡≈◊Õ° àßµ√«®
§√ßÈ—∑®’Ë–‡√¡Ë‘„À°â“√√°—…“¥«â¬‚ø‡≈µ ∑“ßÀâÕߪؑ∫—µ‘°“√‡©æ“–‰¥âÕ¬à“߇À¡“– ¡ 𔉪 àŸ
°“√«π‘®‘©¬—·≈–√°—…“‰¥Õâ ¬“àß∂°ŸµÕâ ß·≈–·¡πà ¬”

µ“√“ß∑Ë’11.3 °“√µ√«®∑“ßÀÕâߪØ∫‘µ—°‘“√„πºªâŸ«É¬∑¢’Ë“¥«µ‘“¡π‘∫’12 ·≈–‚ø‡≈µ

°“√∑¥ Õ∫ °“√¢“¥«µ‘“¡π‘∫’12 °“√¢“¥‚ø‡≈µ
Serum vitamin B12 µË” ª°µÀ‘√Õ◊ borderline
Serum folate ª°µÀ‘√Õ◊  ßŸ µ”Ë
RBC folate ª°µÀ‘√Õ◊ µ”Ë µ”Ë

‡Õ° “√Õ“âßÕß‘
1. Õ¿™‘¬— ≈≈’–»√‘.‘Nutritional anemia. „π: «™‘¬— ª√–¬√Ÿ 4. Sills R. Iron-Deficiency Anemia. In: Kliegman
««‘≤— π,å ÕÕâ¬∑摬å≥ ∂≈“ß, ∫√√≥“∏°‘“√. ‚≈Àµ‘«∑‘¬“ RM, Stanton BF, St.Geme III JW, Schor NF,
‡∫◊ÈÕßµâπ. æ‘¡æå§√—Èß∑’Ë2. °√ÿ߇∑æœ: ∫√‘…—∑ √ÿàß»‘≈ªá Behrman RE, editors. Nelson Textbook of
°“√æ¡‘æå(1977) ®”°¥— 2549. Àπ“â. 66-77. Pediatrics. 20th ed. Philadelphia, PA: Elsevier
Saunders; 2016. p. 2323-6.
2. McLean E, Cogswell M, Egli I, Wojdyla D, de
Benoist B. Worldwide prevalence of anaemia, 5. Fleming MD. Disorders of Iron and Copper
WHO Vitamin and Mineral Nutrition Information Metabolism, the Sideroblastic Anemias, and Lead
Toxicity. In: Orkin SH, Nathan DG, Ginsburg
System, 1993-2005. Public Health Nutr. 2009; D, Look AT, Fisher DE, Lux SE, editors. Nathan
12(4):444-54.
3. Stevens GA, Finucane MM, De-Regil LM, and Oskiûs Hematology of Infancy and Child-
hood. 8th ed. Philadelphia, PA: Elsevier Saunders;
Paciorek CJ, Flaxman SR, Branca F, et al. 2015. p. 344-81.
Global, regional, and national trends in haemo-
globin concentration and prevalence of total and 6. DeLoughery TG. Microcytic anemia. N Engl J
severe anaemia in children and pregnant and Med. 2014;371(26):2537.
non-pregnant women for 1995-2011: a systematic 7. American Academy of Pediatrics Committee on
analysis of population-representative data. Nutrition: The use of whole cowûs milk in in-
fancy. Pediatrics. 1992;89(6 Pt 1):1105-9.
Lancet Glob Health. 2013;1(1):e16-25.

¿“«–‚≈Àµ‘®“ß®“°°“√¢“¥ “√Õ“À“√ Nutritional Anemia 177

8. Wharton BA. Iron deficiency in children: detec- «‘π‘®©—¬¿“«–‚≈À‘µ®“ß„π‡«™ªØ‘∫—µ‘. „π: π¿™“≠
tion and prevention. Br J Haematol. 1999;106 ‡ÕÕÈ◊ ª√–‡ √∞‘, ∫√√≥“∏°‘“√. Diagnosis Approach in
(2):270-80. Hematology: Laboratory Interpretation and
Clinical correlation. °√ÿ߇∑æœ: ‚√ßæ‘¡æå·Ààß
9. Powers JM, Buchanan GR. Diagnosis and ®Ãÿ“≈ß°√≥¡åÀ“«∑‘¬“≈¬—; 2555. Àπ“â. 34-79.
management of iron deficiency anemia. Hematol 16. Lanzkowsky P. Megaloblastic anemia. In:
Oncol Clin North Am. 2014;28(4):729-45, Lanzkowsky P, Lipton JM, Fish JD, editors.
vi-vii. Lanzkowskyûs Manual of Pediatric Hematology
and Oncology. 6th ed. Sandiego, CA: Elsevierûs
10. Õ√ÿ≥’‡®µ»√’ ÿ¿“æ. Iron Deficiency Anemia in Science&Technology; 2016. p. 84-101.
children. „π: «‘™—¬ ª√–¬Ÿ√«‘«—≤πå, ªí≠≠“ ‡ ° √√, 17. Green R, Datta Mitra A. Megaloblastic
∫√√≥“∏‘°“√. ‡«™ªØ‘∫—µ‘∑“ß‚≈À‘µ«‘∑¬“. °√ÿ߇∑æœ: Anemias: Nutritional and Other Causes. Med Clin
π”Õ°—…√°“√æ¡‘æå2552. Àπ“â. 173-81. North Am. 2017;101(2):297-317.
18. Nagao T, Hirokawa M. Diagnosis and treatment
11. Cook JD. Diagnosis and management of of macrocytic anemias in adults. J Gen Fam Med.
iron-deficiency anaemia. Best Pract Res Clin 2017;18(5):200-4.
Haematol. 2005;18(2):319-32. 19. Green R, Dwyre DM. Evaluation of Macrocytic
Anemias. Semin Hematol. 2015;52(4):279-86.
12. DeLoughery TG. Iron Deficiency Anemia. Med 20. Oberley MJ, Yang DT. Laboratory testing for
Clin North Am. 2017;101(2):319-32. cobalamin deficiency in megaloblastic anemia.
Am J Hematol. 2013;88(6):522-6.
13. Camaschella C. Iron-Deficiency Anemia. N Engl 21. Sobczynska-Malefora A, Harrington DJ.
J Med. 2015;373(5):485-6. Laboratory assessment of folate (vitamin B9)
status. J Clin Pathol. 2018;71(11):949-56.
14. Baker RD, Greer FR, Committee on Nutrition
American Academy of P. Diagnosis and
prevention of iron deficiency and iron-deficiency
anemia in infants and young children (0-3 years
of age). Pediatrics. 2010;126(5):1040-50.

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