Characterization of a factor H mutation that perturbs the alternative pathway of complement in a family with membranoproliferative GN.

ABSTRACT: Complement C3 activation is a characteristic finding in membranoproliferative GN (MPGN). This activation can be caused by immune complex deposition or an acquired or inherited defect in complement regulation. Deficiency of complement factor H has long been associated with MPGN. More recently, heterozygous genetic variants have been reported in sporadic cases of MPGN, although their functional significance has not been assessed. We describe a family with MPGN and acquired partial lipodystrophy. Although C3 nephritic factor was shown in family members with acquired partial lipodystrophy, it did not segregate with the renal phenotype. Genetic analysis revealed a novel heterozygous mutation in complement factor H (R83S) in addition to known risk polymorphisms carried by individuals with MPGN.

SUBMITTER: Wong EK 

PROVIDER: S-EPMC4214516 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature