Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome.

ABSTRACT: Atypical hemolytic uremic syndrome (HUS) presents with the clinical features of hypertension, microangiopathic hemolytic anemia, and acute renal failure. Both dominant and recessive modes of inheritance have been reported. This study describes the genetic and functional analysis of a large Bedouin kindred with autosomal recessive HUS. The kindred consists of several related nuclear families in which all parent unions of affected children are consanguineous. A previous report demonstrated that a dominant form of HUS maps to chromosome 1q and that complement factor H (CFH), a regulatory component of the complement system, lies within the region and is involved in the dominant disorder. Early-onset and persistent hypocomplementemia in this Bedouin kindred prompted us to evaluate the CFH gene.

SUBMITTER: Ying L 

PROVIDER: S-EPMC1288364 | biostudies-literature | 1999 Dec

REPOSITORIES: biostudies-literature