Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.

ABSTRACT:

Introduction

Nephronophthisis (NPH) comprises a group of rare disorders accounting for up to 10% of end-stage kidney disease (ESKD) in children. Prediction of kidney prognosis poses a major challenge. We assessed differences in kidney survival, impact of variant type, and the association of clinical characteristics with declining kidney function.

Methods

Data was obtained from 3 independent sources, namely the network for early onset cystic kidney diseases clinical registry (n = 105), an online survey sent out to the European Reference Network for Rare Kidney Diseases (n = 60), and a literature search (n = 218).

Results

A total of 383 individuals were available for analysis: 116 NPHP1, 101 NPHP3, 81 NPHP4 and 85 NPHP11/TMEM

SUBMITTER: Konig JC 

PROVIDER: S-EPMC9459005 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature