Germline Mutations for Kidney Volume in ADPKD.

ABSTRACT:

Introduction

Valid prediction models or predictors of disease progression in children and young patients with autosomal dominant polycystic kidney disease (ADPKD) are lacking. Although total kidney volume (TKV) and Mayo imaging classification are generally used to predict disease progression in patients with ADPKD, it remains unclear whether germline mutation types are associated with these factors. We therefore investigated the association between mutation type and TKV and Mayo imaging classification among patients with ADPKD.

Methods

A total of 129 patients with ADPKD who underwent genetic analyses were enrolled in the study. The associations between the severity of PKD (TKV ≥ 1000 ml and Mayo classes 1C-1E) and the PKD1 mutation types (nonsense mutation, frameshift

SUBMITTER: Kataoka H 

PROVIDER: S-EPMC8897295 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature