Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome

Caprioli, Jessica; Noris, Marina; Brioschi, Simona; Pianetti, Gaia; Castelletti, Federica; Bettinaglio, Paola; Mele, Caterina; Bresin, Elena; Cassis, Linda; Gamba, Sara; Porrati, Francesca; Bucchioni, Sara; Monteferrante, Giuseppe; J. Fang, Celia; Kathryn Liszewski, M.; Kavanagh, David; P. Atkinson, John; Remuzzi, Giuseppe; the International Registry of Recurrent and Familial HUS/TTP, for

doi:10.1182/blood-2005-10-007252

Public

Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome

Published in Blood • Apr 19, 2006

Authors:

Jessica Caprioli

Marina Noris

Simona Brioschi

Abstract

Hemolytic uremic syndrome (HUS) is a thrombotic microangiopathy with manifestations of hemolytic anemia, thrombocytopenia, and renal impairment. Genetic studies have shown that mutations in complement regulatory proteins predispose to non-Shiga toxin-associated HUS (non-Stx-HUS). We undertook geneti...

Subject

Factor H

Thrombotic microangiopathy

Complement factor I

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