Article
Initial Suspicion of Autosomal Dominant Polycystic Kidney Disease Resulted in a Diagnosis of Autosomal Dominant Tubulointerstitial Kidney Disease Caused by a UMOD Mutation.
Internal medicine (Tokyo, Japan) - 1 Jan 2026
Usui Toshiaki, Ishibashi Shun, Hattori Akihisa, Nomura Soichiro, Nakajima Kentaro, Harada Takuya, Akiyama Tomoki, Tsunoda Ryoya, Okada Eri, Morito Naoki, Mase Kaori, Saito Chie, Usui Joichi, Kai Hirayasu, Morisada Naoya, Nozu Kandai, Yamagata Kunihiro
Abstract excerpt
A 44-year-old woman presented with bilateral kidney cysts, scattered hepatic cysts, and a family history of polycystic kidney disease initially suspected of being autosomal dominant polycystic kidney disease (ADPKD). However, her clinical course showed atypical features: a modest total kidney volume increase (436 to 643 mL over 4 years) and rapid progression to end-stage kidney disease by 48 years old. Genetic...
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