Familial Variability of Disease Severity in Adult Patients With ADPKD.

ABSTRACT:

Introduction

Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic nephropathy and has striking familial variability of disease severity.

Methods

To better comprehend familial phenotypic variability, we analyzed clinical and pedigree data on 92 unrelated ADPKD kindreds with ≥2 affected individuals (N = 292) from an Irish population. All probands underwent genetic sequencing. Age at onset of kidney failure (KF), decline in estimated glomerular filtration rate (eGFR), predicting renal outcome in polycystic kidney disease (PROPKD) score, and imaging criteria were used to assess and grade disease severity as mild, intermediate, or severe. One mild and 1 severe case per family defined marked intrafamilial variability of disease severity.

Resu

SUBMITTER: Elhassan EAE 

PROVIDER: S-EPMC10928004 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature