Dataset Information

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 pathogenic mutations, those with pathogenic mutations were significantly younger but did not significantly differ in the classic NPH pathologic findings, such as tubular cysts. On the other hand, the number of tubules with thick tubular basement membrane (TBM) duplication, which was defined as >10-μm thickness, was significantly higher in patients with genetically proven adult NPH than in those without pathogenic mutations. α-Smooth muscle actin (α-SMA)-positive myofibroblasts were detected inside thick TBM duplication.

Conclusions

In adult patients with NPH, thick TBM duplication was the specific finding. Our analysis also suggested that older patients tended to have no pathogenic mutations, even when they were suspected to have NPH by renal biopsy. These findings could be the novel clinical clue for the diagnosis of NPH in adult patients.

SUBMITTER: Fujimaru T

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

REPOSITORIES: biostudies-literature

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Publications

Genetic Background and Clinicopathologic Features of Adult-onset Nephronophthisis.

Fujimaru Takuya T Kawanishi Kunio K Mori Takayasu T Mishima Eikan E Sekine Akinari A Chiga Motoko M Mizui Masayuki M Sato Noriaki N Yanagita Motoko M Ooki Yuki Y Nagahama Kiyotaka K Ohnuki Yuko Y Hamano Naoto N Watanabe Saki S Mochizuki Toshio T Nagatsuji Katsushi K Tanaka Kenichi K Tsukamoto Tatsuo T Tsushima Hideo H Shimamoto Mamiko M Tsuji Takahiro T Kuyama Tamaki T Kawamoto Shinya S Maki Kenji K Katsuma Ai A Oishi Mariko M Yamamoto Kouhei K Mandai Shintaro S Kikuchi Hiroaki H Ando Fumiaki F Mori Yutaro Y Susa Koichiro K Iimori Soichiro S Naito Shotaro S Rai Tatemitsu T Hoshino Junichi J Ubara Yoshifumi Y Miyazaki Mariko M Nagata Michio M Uchida Shinichi S Sohara Eisei E

Kidney international reports 20210304 5

<h4>Introduction</h4>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.<h4>Methods</h4>We investigated 18 sporadic adult patients who were suspected as having NPH by renal biopsy. We analyzed 69 genes that cause hereditary cystic kidn ...[more]

PMID: 34013113

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Dataset Information

Genetic Background and Clinicopathologic Features of Adult-onset Nephronophthisis.

Introduction

Methods

Results

Conclusions

Publications

Genetic Background and Clinicopathologic Features of Adult-onset Nephronophthisis.

Similar Datasets

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