Atypical haemolytic uraemic syndrome.
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.
Kavanagh
David
D
Washington University School of Medicine, St Louis, MO 63110, USA.
Goodship
Timothy H J
TH
Richards
Anna
A
D017242:Complement Factor H / Q000235:genetics; D003937:Diagnosis, Differential; D006463:Hemolytic-Uremic Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006801:Humans; D051916:Membrane Cofactor Protein / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D011697:Purpura, Thrombotic Thrombocytopenic / Q000175:diagnosis
D051916:Membrane Cofactor Protein; D017242:Complement Factor H