Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease.

ABSTRACT:

Introduction

Autosomal recessive polycystic kidney disease (ARPKD) is a rare monogenic disorder characterized by early onset fibrocystic hepatorenal changes. Previous reports have documented pronounced phenotypic variability even among siblings in terms of patient survival. The underlying causes for this clinical variability are incompletely understood.

Methods

We present the longitudinal clinical courses of 35 sibling pairs included in the ARPKD registry study ARegPKD, encompassing data on primary manifestation, prenatal and perinatal findings, genetic testing, and family history, including kidney function, liver involvement, and radiological findings.

Results

We identified 70 siblings from 35 families with a median age of 0.7 (interquartile range 0.1-6.0) years at i

SUBMITTER: Ajiri R 

PROVIDER: S-EPMC9263410 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature