Article
Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.
Blood - 15 Aug 2006
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, Fang Celia J, Liszewski M K, Kavanagh David, Atkinson John P, Remuzzi Giuseppe
Abstract excerpt
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 genetic analysis on membrane cofactor protein (MCP), complement factor H (CFH), and factor I (IF) in 156 patients with...
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