KEGG   DISEASE: 胎児母体同種免疫性血小板減少症
エントリ  
H02979                                                             
名称    
胎児母体同種免疫性血小板減少症;
新生児同種免疫性血小板減少症
概要    
Fetomaternal alloimmune thrombocytopenia (FMAIT), also known as neonatal alloimmune thrombocytopenia (NAIT), is a relatively uncommon disease, but is the leading cause of severe thrombocytopenia in the newborn. Neonatal intracranial hemorrhage is a severe complication of this disease, resulting in irreversible damage to cranial nerves and potential neonatal death. It has been reported that FMAIT is caused by maternal alloantibodies against paternally-inherited platelet antigens, most frequently HPA-1a on integrin beta 3. Many other antibodies have been identified, but are rare.
カテゴリ  
血液疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 03 血液・造血器の疾患
  凝固障害, 紫斑病またはその他の出血性または関連病状
   3B64  血小板減少症
    H02979  胎児母体同種免疫性血小板減少症
病因遺伝子 
(FMAIT1) ITGB3 [HSA:3690] [KO:K06493]
(FMAIT2) ITGA2B [HSA:3674] [KO:K06476]
(FMAIT3) ITGA2 [HSA:3673] [KO:K06481]
リンク   
ICD-11: 3B64.13
OMIM: 621264 621266 621267
文献    
PMID:31859394 (FMAIT1)
  著者
Holzwarth ST, Strobel J, Cooper N, Leyh J, Bayat B, Bein G, Zingsem J, Sachs UJ
  タイトル
A point mutation c.473A > G of ITGB3 is responsible for the formation of the Wo(a) human platelet alloantigen.
  雑誌
Transfusion 60:E5-E6 (2020)
DOI:10.1111/trf.15640
文献    
PMID:36581513 (FMAIT2)
  著者
Stam W, Wachholz GE, de Pereda JM, Kapur R, van der Schoot E, Margadant C
  タイトル
Fetal and neonatal alloimmune thrombocytopenia: Current pathophysiological insights and perspectives for future diagnostics and treatment.
  雑誌
Blood Rev 59:101038 (2023)
DOI:10.1016/j.blre.2022.101038
文献    
PMID:10590055 (FMAIT3)
  著者
Santoso S, Amrhein J, Hofmann HA, Sachs UJ, Walka MM, Kroll H, Kiefel V
  タイトル
A point mutation Thr(799)Met on the alpha(2) integrin leads to the formation of new human platelet alloantigen Sit(a) and affects collagen-induced aggregation.
  雑誌
Blood 94:4103-11 (1999)
文献    
  著者
Espinoza JP, Caradeux J, Norwitz ER, Illanes SE
  タイトル
Fetal and neonatal alloimmune thrombocytopenia.
  雑誌
Rev Obstet Gynecol 6:e15-21 (2013)
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