International Journal of Pediatrics 2011;38(2):147-150

doi:10.3760/cma.j.issn.1673-4408.2011.02.017

Progress on molecular genetics in atypical hemolytic uremic syndrome

Limin GAO

Keywords

Atypical hemolytic uremic syndrome; Mutation; Complement factor H; Membrane cofactor protein; Complement factor Ⅰ

Country

China

Language

Chinese

Abstract

Atypical hemolytic uremic syndrome(aHUS) has recently been shown to be a rare disease of genetic predisposition, including genes of complement factor H(CFH), membrane cofactor protein(MCP, CD46)and complement factor Ⅰ(CFI), which are complement regulatory genes. Genes mutation is about 50%,involving the three genes mutation, including nonsense mutation, missen mutation, silent mutation, splice mutation and insertion mutation. Autosomal dominant inheritance and autosomal recessive inheritance have been reported, however, for autosomal dominant inheritance, the three genes mutations are incomplete penetrance.