Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.

ABSTRACT:

Background and objectives

To date, very few cases with adult-onset focal segmental glomerulosclerosis (FSGS) carrying NPHS2 variants have been described, all of them being compound heterozygous for the p.R229Q variant and one pathogenic mutation.

Design, setting, participants, & measurements

Mutation analysis was performed in 148 unrelated Spanish patients, of whom 50 presented with FSGS after 18 years of age. Pathogenicity of amino acid substitutions was evaluated through an in silico scoring system. Haplotype analysis was carried out using NPHS2 single nucleotide polymorphism and microsatellite markers.

Results

Compound heterozygous or homozygous NPHS2 pathogenic mutations were identified in seven childhood-onset steroid-resistant nephrotic syndrome (SRNS) cases. Si

SUBMITTER: Santin S 

PROVIDER: S-EPMC3052225 | biostudies-literature | 2011 Feb

REPOSITORIES: biostudies-literature