The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase ε.

ABSTRACT: The recent discovery of mutations in the gene encoding diacylglycerol kinase ε (DGKE) identified a novel pathophysiologic mechanism leading to HUS and/or MPGN. We report ten new patients from eight unrelated kindreds with DGKE nephropathy. We combined these cases with all previously published cases to characterize the phenotypic spectrum and outcomes of this new disease entity. Most patients presented with HUS accompanied by proteinuria, whereas a subset of patients exhibited clinical and histologic patterns of MPGN without TMA. We also report the first two patients with clinical and histologic HUS/MPGN overlap. DGKE-HUS typically manifested in the first year of life but was not exclusively limited to infancy, and viral triggers frequently preceded HUS episodes. We observed signs of

SUBMITTER: Azukaitis K 

PROVIDER: S-EPMC5619969 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature