| H01434 | |
| H number | H01434 |
| Name | Atypical hemolytic uremic syndrome |
| Description | 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. |
| Category | Hematologic disease |
| Network | nt06513(H01434) Complement cascade |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Eculizumab [DR:D03940] Ravulizumab [DR:D11054] |
| Comment | - |
| Other DBs | ICD-11: 3A10.Y ICD-10: D58.8 MeSH: D065766 OMIM: 235400 612922 612923 612924 612925 612926 |
| Reference | PMID:16968692 AUTHORS Kavanagh D, Goodship TH, Richards A TITLE Atypical haemolytic uraemic syndrome. JOURNAL Br Med Bull 77-78:5-22 (2006) DOI:10.1093/bmb/ldl004 PMID:9551389 (CFH) AUTHORS Warwicker P, Goodship TH, Donne RL, Pirson Y, Nicholls A, Ward RM, Turnpenny P, Goodship JA TITLE Genetic studies into inherited and sporadic hemolytic uremic syndrome. JOURNAL Kidney Int 53:836-44 (1998) DOI:10.1111/j.1523-1755.1998.00824.x PMID:17367211 (CFHR3 CFHR1) AUTHORS 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 TITLE Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome. JOURNAL PLoS Genet 3:e41 (2007) DOI:10.1371/journal.pgen.0030041 PMID:14615110 (CD46) AUTHORS Noris M, Brioschi S, Caprioli J, Todeschini M, Bresin E, Porrati F, Gamba S, Remuzzi G TITLE Familial haemolytic uraemic syndrome and an MCP mutation. JOURNAL Lancet 362:1542-7 (2003) DOI:10.1016/S0140-6736(03)14742-3 PMID:15173250 (CFI) AUTHORS Fremeaux-Bacchi V, Dragon-Durey MA, Blouin J, Vigneau C, Kuypers D, Boudailliez B, Loirat C, Rondeau E, Fridman WH TITLE Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome. JOURNAL J Med Genet 41:e84 (2004) DOI:10.1136/jmg.2004.019083 PMID:17182750 (CFB) AUTHORS 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 TITLE Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. JOURNAL Proc Natl Acad Sci U S A 104:240-5 (2007) DOI:10.1073/pnas.0603420103 PMID:18796626 (C3) AUTHORS 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 TITLE Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. JOURNAL Blood 112:4948-52 (2008) DOI:10.1182/blood-2008-01-133702 PMID:19625716 (THBD) AUTHORS 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 TITLE Thrombomodulin mutations in atypical hemolytic-uremic syndrome. JOURNAL N Engl J Med 361:345-57 (2009) DOI:10.1056/NEJMoa0810739 |