PKD1 mutation may epistatically ameliorate nephronophthisis progression in patients with NPHP1 deletion

Saki Watanabe; Jun Ino; Takuya Fujimaru; Sekiko Taneda; Taro Akihisa; Shiho Makabe; Hiroshi Kataoka; Takayasu Mori; Eisei Sohara; Shinichi Uchida; Kosaku Nitta; Toshio Mochizuki

doi:10.1002/ccr3.1947

PKD1 mutation may epistatically ameliorate nephronophthisis progression in patients with NPHP1 deletion

Clin Case Rep. 2019 Jan 9;7(2):336-339. doi: 10.1002/ccr3.1947. eCollection 2019 Feb.

Authors

Saki Watanabe^{1

2}, Jun Ino², Takuya Fujimaru³, Sekiko Taneda⁴, Taro Akihisa¹, Shiho Makabe¹, Hiroshi Kataoka^{1

5}, Takayasu Mori³, Eisei Sohara³, Shinichi Uchida³, Kosaku Nitta¹, Toshio Mochizuki^{1

5}

Affiliations

¹ Department of Medicine, Kidney Center Tokyo Women's Medical University Shinjuku-ku Japan.
² Department of Medicine, Division of Nephrology Todachuo General Hospital Toda Japan.
³ Department of Nephrology, Graduate School of Medical and Dental Sciences Tokyo Medical and Dental University Bunkyo-ku Japan.
⁴ Department of Pathology Tokyo Women's Medical University Shinjuku-ku Japan.
⁵ Clinical Research Division for Polycystic Kidney Disease, Department of Medicine, Kidney Center Tokyo Women's Medical University Shinjuku-ku Japan.

Abstract

We report a patient with adult-onset nephronophthisis (NPHP) that was identified a homozygous full gene deletion of NPHP1 and a heterozygous PKD1 mutation. We suggest that the PKD1 mutation may have epistatically ameliorated NPHP disease progression and that the screening of larger cohorts for similar possible epistatic effects is needed.

Keywords: ADPKD; ciliopathy; epistatic effect; nephronophthisis; polycystic kidney disease.

Publication types

Case Reports