Intrafamilial Variability of ADPKD.

ABSTRACT:

Introduction

Discordance in kidney disease severity between affected relatives is a recognized feature of autosomal dominant polycystic kidney disease (ADPKD). Here, we report a systematic study of a large cohort of families to define the prevalence and clinical features of intrafamilial discordance in ADPKD.

Methods

The extended Toronto Genetic Epidemiology Study of Polycystic Kidney Disease (eTGESP) cohort includes 1390 patients from 612 unrelated families with ADPKD ascertained in a regional polycystic kidney disease center. All probands underwent comprehensive PKD1 and PKD2 mutation screening. Total kidney volume by magnetic resonance imaging (MRI) was available in 500 study patients.

Results

Based on (i) rate of estimated glomerular filtration rate

SUBMITTER: Lanktree MB 

PROVIDER: S-EPMC6611955 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature