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British Medical Bulletin Advance Access originally published online on September 11, 2006
British Medical Bulletin 2006 77-78(1):5-22; doi:10.1093/bmb/ldl004
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© The Author 2006. Published by Oxford University Press. For Permissions, please email: journals.permissions@oxfordjournals.org

Atypical haemolytic uraemic syndrome

David Kavanagh1, Timothy H. J. Goodship2 and Anna Richards1,*

1 Washington University School of Medicine, St Louis, MO 63110, USA and
2 The Institute of Human Genetics, University of Newcastle upon Tyne NE1 3BZ, UK

* Correspondence to: Anna Richards, Washington University School of Medicine, Campus Box 8045, St Louis, MO 63110, USA. Tel.: +1 314 3628391; fax: 1 314 3621366; e-mail: anna.richards{at}ncl.ac.uk

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 or non-diarrhoeal/atypical (aHUS). aHUS has recently been shown to be a disease of complement dysregulation, with 50% of cases involving the complement regulatory genes, factor H (CFH), membrane cofactor protein (MCP; CD46), and factor I (IF). However, incomplete penetrance of mutations in each of these genes is reported. This suggests that a precipitating event or trigger is required to unmask the complement regulatory deficiency. The reported precipitating events predominantly cause endothelial injury. Discovery of these mutations has revealed important genotype–phenotype correlations. MCP-HUS has a better prognosis and a better outcome after transplantation than either CFH-HUS or IF-HUS.

Keywords: atypical haemolytic uraemic syndrome (aHUS) • complement factor H (CFH) • membrane cofactor protein (MCP; CD46) • factor I (IF) • renal transplantation • thrombotic thrombocytopenic purpura (TTP)


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