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Genetics and complement in atypical HUS

Lookup NU author(s): Professor David KavanaghORCiD, Professor Tim Goodship

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Abstract

Central to the pathogenesis of atypical hemolytic uremic syndrome (aHUS) is over-activation of the alternative pathway of complement. Following the initial discovery of mutations in the complement regulatory protein, factor H, mutations have been described in factor I, membrane cofactor protein and thrombomodulin, which also result in decreased complement regulation. Autoantibodies to factor H have also been reported to impair complement regulation in aHUS. More recently, gain of function mutations in the complement components C3 and Factor B have been seen. This review focuses on the genetic causes of aHUS, their functional consequences, and clinical effect.

Publication metadata

Author(s): Kavanagh D, Goodship T

Publication type: Review

Publication status: Published

Journal: Pediatric Nephrology

Year: 2010

Volume: 25

Issue: 12

Pages: 2431-2442

Print publication date: 07/06/2010

ISSN (print): 0931-041X

ISSN (electronic): 1432-198X

URL: http://dx.doi.org/10.1007/s00467-010-1555-5

DOI: 10.1007/s00467-010-1555-5

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