Article
Unusual clinical severity of complement membrane cofactor protein-associated hemolytic-uremic syndrome and uniparental isodisomy.
American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Feb 2007
Fremeaux-Bacchi Veronique, Sanlaville Damien, Menouer Soraya, Blouin Jacques, Dragon-Durey Marie-Agnès, Fischbach Michel, Vekemans Michel, Fridman Wolf Herman
Abstract excerpt
Atypical hemolytic-uremic syndrome (aHUS; OMIM 235400) is genetically and clinically heterogeneous. Mutations in membrane cofactor protein (MCP; CD46), a widely expressed complement regulator, predispose to recurrent forms of the disease. Patients carrying MCP mutations have a favorable clinical outcome in comparison to those with factor H (CFH) or factor I (IF) mutations, which lead in most cases to end-stage...
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