Atypical hemolytic uremic syndrome

Definition:

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.

References:

[1]. David Kavanagh, et al. Atypical haemolytic uraemic syndrome. Br Med Bull. 2006;77-78:5-22. [Content Brief]

[2]. Elena Goicoechea de Jorge, et al. Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. Proc Natl Acad Sci U S A. 2007 Jan 2;104(1):240-5. [Content Brief]

[3]. Marina Noris, et al. Familial haemolytic uraemic syndrome and an MCP mutation. Lancet. 2003 Nov 8;362(9395):1542-7. [Content Brief]

[4]. Mieke Delvaeye, et al. Thrombomodulin mutations in atypical hemolytic-uremic syndrome. N Engl J Med. 2009 Jul 23;361(4):345-57. [Content Brief]

[5]. P Warwicker, et al. Genetic studies into inherited and sporadic hemolytic uremic syndrome. Kidney Int. 1998 Apr;53(4):836-44. [Content Brief]

[6]. Peter F Zipfel, et al. Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome. PLoS Genet. 2007 Mar 16;3(3):e41. [Content Brief]

[7]. V Fremeaux-Bacchi, et al. Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome. J Med Genet. 2004 Jun;41(6):e84. [Content Brief]

[8]. Veronique Frémeaux-Bacchi, et al. Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. Blood. 2008 Dec 15;112(13):4948-52. [Content Brief]

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