Genetic Background and Clinicopathologic Features of Adult-onset Nephronophthisis.

ABSTRACT:

Introduction

Recently, nephronophthisis (NPH) has been considered a monogenic cause of end-stage renal disease (ESRD) in adults. However, adult-onset NPH is difficult to accurately diagnose and has not been reported in a cohort study. In this study, we assessed the genetic background and clinicopathologic features of adult NPH.

Methods

We investigated 18 sporadic adult patients who were suspected as having NPH by renal biopsy. We analyzed 69 genes that cause hereditary cystic kidney disease and compared clinicopathologic findings between patients with and without pathogenic mutations in NPH-causing genes.

Results

Seven of 18 patients had pathogenic NPH-causing mutations in NPHP1, NPHP3, NPHP4, or CEP164. Compared with patients without patho

SUBMITTER: Fujimaru T 

PROVIDER: S-EPMC8116764 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature