Article
Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree.
Molecular immunology - 1 Apr 2006
Esparza-Gordillo Jorge, Jorge Elena Goicoechea de, Garrido Cynthia Abarrategui, Carreras Luis, López-Trascasa Margarita, Sánchez-Corral Pilar, de Córdoba Santiago Rodríguez
Abstract excerpt
Mutations in the complement regulators factor H, membrane cofactor protein (MCP), and factor I are associated with atypical hemolytic uremic syndrome (aHUS, MIM 235400), suggesting that the disease develops as a consequence of the inefficient protection of the renal endothelium from damage by the complement system. Incomplete penetrance of the disease in individuals carrying these mutations is, however,...
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