Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS.

ABSTRACT:

Background and objectives

FSGS and nephrotic syndrome studies have shown that single gene causes are more likely to be found in pediatric cases than adults. Consequently, many studies have examined limited gene panels in largely pediatric cohorts.

Design, setting, participants, & measurements

Whole-exome sequencing was performed in adults with FSGS diagnosed between 1976 and 2017 in the Toronto GN Registry. An expanded panel of 109 genes linked to FSGS, glomerular basement membrane abnormalities, as well as causes of pediatric ESKD including congenital abnormalities of the kidney and urinary tract (CAKUT) and nephronophthisis, were examined.

Results

The cohort was composed of 193 individuals from 179 families. Nearly half (49%) developed ESKD at a mean age of 47±17 ye

SUBMITTER: Yao T 

PROVIDER: S-EPMC6390925 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature