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Lookup NU author(s): Professor David KavanaghORCiD, Professor Tim Goodship, Dr Anna Richards
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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. © The Author 2006.
Author(s): Kavanagh D, Goodship THJ, Richards A
Publication type: Review
Publication status: Published
Journal: British Medical Bulletin
Year: 2006
Volume: 77-78
Issue: 1
Pages: 5-22
ISSN (print): 0007-1420
ISSN (electronic): 1471-8391
URL: http://dx.doi.org/10.1093/bmb/ldl004
DOI: 10.1093/bmb/ldl004
PubMed id: 16968692
