Genetics and complement in atypical HUS View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2010-06-06

AUTHORS

David Kavanagh, Tim Goodship

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. More... »

PAGES

2431-2442

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00467-010-1555-5

DOI

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

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1016124974

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/20526633


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