Genetic investigation of Nordic patients with complement-mediated kidney diseases.

ABSTRACT:

Background

Complement activation in atypical hemolytic uremic syndrome (aHUS), C3 glomerulonephropathy (C3G) and immune complex-mediated membranoproliferative glomerulonephritis (IC-MPGN) may be associated with rare genetic variants. Here we describe gene variants in the Swedish and Norwegian populations.

Methods

Patients with these diagnoses (N=141) were referred for genetic screening. Sanger or next-generation sequencing were performed to identify genetic variants in 16 genes associated with these conditions. Nonsynonymous genetic variants are described when they have a minor allele frequency of <1% or were previously reported as being disease-associated.

Results

In patients with aHUS (n=94, one also had IC-MPGN) 68 different genetic variants or deletions were ident

SUBMITTER: Rydberg V 

PROVIDER: S-EPMC10513385 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature