Genetics of HUS

PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Genetics of HUS: the impact of MCP, CFH and IF mutations on clinical presentation, response to treatment and outcome” (Blood. 2006 Apr 18). Authors are Caprioli J, Noris M, Brioschi S et al, from the Mario Negri Institute for Pharmacological Research, Clinical Research Center for Rare Diseases, Italy. 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). Genetic analysis on membrane cofactor protein (MCP), factor H (CFH) and factor I (IF), in 156 patients with non-Stx-HUS was undertaken. Fourteen, eleven and five new mutational events were found in MCP, CFH and IF, respectively. This study documents that the presentation, the response to therapy and the outcome of the disease are influenced by the genotype. Hopefully this will translate into improved management and therapy of patients and will provide the way to design tailored treatments. To access the full abstract of the article, click here.