KEGG   DISEASE: 非典型溶血性尿毒症症候群
エントリ  
H01434                                                             
名称    
非典型溶血性尿毒症症候群
概要    
The haemolytic uraemic syndrome (HUS) is characterized by the triad of thrombocytopenia, microangiopathic haemolytic anaemia and acute renal failure. HUS may be classified as either diarrhoeal-associated (D+HUS) or non-diarrhoeal/atypical (aHUS). Approximately half of the patients with aHUS have mutations in genes that regulate the complement system. Several other conditions and factors, such as infection, drugs, pregnancy, and malignancy, have been reported to cause aHUS.
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
  貧血または他の赤血球系疾患
   溶血性貧血
    先天性溶血性貧血
     3A10  遺伝性溶血性貧血
      H01434  非典型溶血性尿毒症症候群
パスウェイに基づく疾患分類 [BR:jp08402]
 免疫系
  nt06513  補体カスケード
   H01434  非典型溶血性尿毒症症候群
指定難病 [jp08407.html]
 H01434
パスウェイ 
hsa04610  Complement and coagulation cascades
ネットワーク
nt06513 Complement cascade
病因遺伝子 
(AHUS1) CFH [HSA:3075] [KO:K04004]
(AHUS1) CFHR3 [HSA:10878] [KO:K23815]
(AHUS1) CFHR1 [HSA:3078] [KO:K23815]
(AHUS2) CD46, MCP [HSA:4179] [KO:K04007]
(AHUS3) CFI, IF [HSA:3426] [KO:K01333]
(AHUS4) CFB [HSA:629] [KO:K01335]
(AHUS5) C3 [HSA:718] [KO:K03990]
(AHUS6) THBD [HSA:7056] [KO:K03907]
治療薬   
エクリズマブ [DR:D03940]
ラブリズマブ [DR:D11054]
リンク   
ICD-11: 3A10.Y
ICD-10: D58.8
MeSH: D065766
OMIM: 235400 612922 612923 612924 612925 612926
文献    
PMID:16968692
  著者
Kavanagh D, Goodship TH, Richards A
  タイトル
Atypical haemolytic uraemic syndrome.
  雑誌
Br Med Bull 77-78:5-22 (2006)
DOI:10.1093/bmb/ldl004
文献    
PMID:9551389 (CFH)
  著者
Warwicker P, Goodship TH, Donne RL, Pirson Y, Nicholls A, Ward RM, Turnpenny P, Goodship JA
  タイトル
Genetic studies into inherited and sporadic hemolytic uremic syndrome.
  雑誌
Kidney Int 53:836-44 (1998)
DOI:10.1111/j.1523-1755.1998.00824.x
文献    
PMID:17367211 (CFHR3 CFHR1)
  著者
Zipfel PF, Edey M, Heinen S, Jozsi M, Richter H, Misselwitz J, Hoppe B, Routledge D, Strain L, Hughes AE, Goodship JA, Licht C, Goodship TH, Skerka C
  タイトル
Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome.
  雑誌
PLoS Genet 3:e41 (2007)
DOI:10.1371/journal.pgen.0030041
文献    
PMID:14615110 (CD46)
  著者
Noris M, Brioschi S, Caprioli J, Todeschini M, Bresin E, Porrati F, Gamba S, Remuzzi G
  タイトル
Familial haemolytic uraemic syndrome and an MCP mutation.
  雑誌
Lancet 362:1542-7 (2003)
DOI:10.1016/S0140-6736(03)14742-3
文献    
PMID:15173250 (CFI)
  著者
Fremeaux-Bacchi V, Dragon-Durey MA, Blouin J, Vigneau C, Kuypers D, Boudailliez B, Loirat C, Rondeau E, Fridman WH
  タイトル
Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome.
  雑誌
J Med Genet 41:e84 (2004)
DOI:10.1136/jmg.2004.019083
文献    
PMID:17182750 (CFB)
  著者
Goicoechea de Jorge E, Harris CL, Esparza-Gordillo J, Carreras L, Arranz EA, Garrido CA, Lopez-Trascasa M, Sanchez-Corral P, Morgan BP, Rodriguez de Cordoba S
  タイトル
Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome.
  雑誌
Proc Natl Acad Sci U S A 104:240-5 (2007)
DOI:10.1073/pnas.0603420103
文献    
PMID:18796626 (C3)
  著者
Fremeaux-Bacchi V, Miller EC, Liszewski MK, Strain L, Blouin J, Brown AL, Moghal N, Kaplan BS, Weiss RA, Lhotta K, Kapur G, Mattoo T, Nivet H, Wong W, Gie S, Hurault de Ligny B, Fischbach M, Gupta R, Hauhart R, Meunier V, Loirat C, Dragon-Durey MA, Fridman WH, Janssen BJ, Goodship TH, Atkinson JP
  タイトル
Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome.
  雑誌
Blood 112:4948-52 (2008)
DOI:10.1182/blood-2008-01-133702
文献    
PMID:19625716 (THBD)
  著者
Delvaeye M, Noris M, De Vriese A, Esmon CT, Esmon NL, Ferrell G, Del-Favero J, Plaisance S, Claes B, Lambrechts D, Zoja C, Remuzzi G, Conway EM
  タイトル
Thrombomodulin mutations in atypical hemolytic-uremic syndrome.
  雑誌
N Engl J Med 361:345-57 (2009)
DOI:10.1056/NEJMoa0810739
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