Importance of IFT140 in Patients with Polycystic Kidney Disease Without a Family History

Importance of IFT140 in Patients with Polycystic Kidney Disease Without a Family History

Introduction: Recently, the monoallelic loss-of-function IFT140 variant was identified as a causative gene for autosomal dominant polycystic kidney disease (ADPKD). In patients with polycystic kidneys who have a positive family history, >90% have pathogenic variants in PKD1 or PKD2, whereas only...

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Main Authors: Takuya Fujimaru, Takayasu Mori, Akinari Sekine, Motoko Chiga, Shintaro Mandai, Hiroaki Kikuchi, Yutaro Mori, Yu Hara, Tamami Fujiki, Fumiaki Ando, Koichiro Susa, Soichiro Iimori, Shotaro Naito, Ryoichi Hanazawa, Akihiro Hirakawa, Toshio Mochizuki, Tatsuya Suwabe, Yoshifumi Ubara, Shinichi Uchida, Eisei Sohara
Format: Article
Language:English
Published: Elsevier 2024-09-01
Series:Kidney International Reports
Subjects:
ADPKD
IFT140
inherited kidney cystic disease
next-generation sequencing
polycystic kidney disease
total kidney volume
Online Access:http://www.sciencedirect.com/science/article/pii/S2468024924017972
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