Genetic Background and Clinicopathologic Features of Adult-onset Nephronophthisis

• DOI: 10.1016/j.ekir.2021.02.005
• Publication Date: 2021-03-07T19:55:19Z
• Authors: Takuya Fujimaru; Kunio Kawanishi; Takayasu Mori; Eikan Mishima; Akinari Sekine; Motoko Chiga; Masayuki Mizui; Noriaki Sato; Motoko Yanagita; Yuki Ooki; Kiyotaka Nagahama; Yuko Ohnuki; Naoto Hamano; Saki Watanabe; Toshio Mochizuki; Katsushi Nagatsuji; Kenichi Tanaka; Tatsuo Tsukamoto; Hideo Tsushima; Mamiko Shimamoto; Takahiro Tsuji; Tamaki Kuyama; Shinya Kawamoto; Kenji Maki; Ai Katsuma; Mariko Oishi; Kouhei Yamamoto; Shintaro Mandai; Hiroaki Kikuchi; Fumiaki Ando; Yutaro Mori; Koichiro Susa; Soichiro Iimori; Shotaro Naito; Tatemitsu Rai; Junichi Hoshino; Yoshifumi Ubara; Mariko Miyazaki; Michio Nagata; Shinichi Uchida; Eisei Sohara
• Keywords: Nephronophthisis

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 not reported cohort study. In this study, we assessed the genetic background clinicopathologic features adult NPH.We investigated 18 sporadic patients who were suspected as having by biopsy. We analyzed 69 genes that hereditary cystic kidney compared findings between with without pathogenic mutations NPH-causing genes.Seven had NPHP1, NPHP3, NPHP4, or CEP164. Compared mutations, those significantly younger but did differ classic pathologic findings, such tubular cysts. On other hand, number tubules thick basement membrane (TBM) duplication, which was defined >10-μm thickness, higher genetically proven than mutations. α-Smooth muscle actin (α-SMA)-positive myofibroblasts detected inside TBM duplication.In NPH, duplication specific finding. Our analysis also suggested older tended have no even when they These could be novel clinical clue for diagnosis patients.