Elsevier

Seminars in Nephrology

Volume 33, Issue 6, November 2013, Pages 508-530
Seminars in Nephrology

Atypical Hemolytic Uremic Syndrome

https://doi.org/10.1016/j.semnephrol.2013.08.003Get rights and content
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Summary

Hemolytic uremic syndrome (HUS) is a triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. The atypical form of HUS is a disease characterized by complement overactivation. Inherited defects in complement genes and acquired autoantibodies against complement regulatory proteins have been described. Incomplete penetrance of mutations in all predisposing genes is reported, suggesting that a precipitating event or trigger is required to unmask the complement regulatory deficiency. The underlying genetic defect predicts the prognosis both in native kidneys and after renal transplantation. The successful trials of the complement inhibitor eculizumab in the treatment of atypical HUS will revolutionize disease management.

Keywords

Complement
eculizumab
factor H
factor I
hemolytic uremic syndrome
membrane cofactor protein
thrombomodulin
transplantation

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Financial support: supported by Wellcome Trust Intermediate Clinical Fellowships (A.R. and D.K.) Kidney Research UK (D.K.)

Conflict of interest statement: All authors have received fees from Alexion Pharmaceuticals for invited lectures and attendance at Global aHUS Advisory panel meetings. AR is named on the patent application (PCT/GB2010/002334) for recombinant factor H.