Initial Suspicion of Autosomal Dominant Polycystic Kidney Disease Resulted in a Diagnosis of Autosomal Dominant Tubulointerstitial Kidney Disease Caused by a UMOD Mutation: A Case Report

Toshiaki Usui; Shun Ishibashi; Akihisa Hattori; Soichiro Nomura; Kentaro Nakajima; Takuya Harada; Tomoki Akiyama; Ryoya Tsunoda; Eri Okada; Naoki Morito; Kaori Mase; Chie Saito; Joichi Usui; Hirayasu Kai; Naoya Morisada; Kandai Nozu; Kunihiro Yamagata

doi:10.2169/internalmedicine.5563-25

Initial Suspicion of Autosomal Dominant Polycystic Kidney Disease Resulted in a Diagnosis of Autosomal Dominant Tubulointerstitial Kidney Disease Caused by a UMOD Mutation: A Case Report

Intern Med. 2025 Jun 19. doi: 10.2169/internalmedicine.5563-25. Online ahead of print.

Authors

Toshiaki Usui¹, Shun Ishibashi^{1

2}, Akihisa Hattori^{1

3}, Soichiro Nomura^{1

4}, Kentaro Nakajima^{1

2}, Takuya Harada^{1

2}, Tomoki Akiyama^{1

2}, Ryoya Tsunoda¹, Eri Okada¹, Naoki Morito¹, Kaori Mase¹, Chie Saito¹, Joichi Usui¹, Hirayasu Kai^{1

3

5}, Naoya Morisada⁶, Kandai Nozu⁷, Kunihiro Yamagata¹

Affiliations

¹ Department of Nephrology, Institute of Medicine, University of Tsukuba, Japan.
² Doctoral Program in Medical Sciences, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Japan.
³ Department of Nephrology, Ibaraki Prefectural Central Hospital, Japan.
⁴ Department of Nephrology, Tsukuba Gakuen Hospital, Japan.
⁵ Department of Nephrology, Ibaraki Clinical Education and Training Center, University of Tsukuba Hospital, Japan.
⁶ Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital, Japan.
⁷ Department of Pediatrics, Kobe University Graduate School of Medicine, Japan.

PMID: 40533238
DOI: 10.2169/internalmedicine.5563-25

Abstract

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 testing revealed autosomal dominant tubulointerstitial kidney disease caused by a UMOD mutation (ADTKD-UMOD). This case highlights the importance of considering genetic testing in ADPKD cases with atypical features, since the diagnosis affects treatment decisions, including kidney replacement therapy selection.

Keywords: Autosomal dominant polycystic kidney disease (ADPKD); UMOD; autosomal dominant tubulointerstitial kidney disease (ADTKD); genetic testing.