Progress on molecular genetics in atypical hemolytic uremic syndrome
10.3760/cma.j.issn.1673-4408.2011.02.017
- VernacularTitle:非典型溶血尿毒综合征分子遗传学研究进展
- Author:
Limin GAO
- Publication Type:Journal Article
- Keywords:
Atypical hemolytic uremic syndrome;
Mutation;
Complement factor H;
Membrane cofactor protein;
Complement factor Ⅰ
- From:
International Journal of Pediatrics
2011;38(2):147-150
- CountryChina
- 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.
