| H01434 | |
| H番号 | 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 |
| ネットワーク | nt06513(H01434) 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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | エクリズマブ [DR:D03940] ラブリズマブ [DR:D11054] |
| コメント | - |
| 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 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 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 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 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 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 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 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 |