Initial Suspicion of Autosomal Dominant Polycystic Kidney Disease Resulted in a Diagnosis of Autosomal Dominant Tubulointerstitial Kidney Disease Caused by a <i>UMOD</i> Mutation
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.
Authors
- Tomoki Akiyama (ORCID: https://orcid.org/0000-0002-9781-905X)
- Chie Saito (ORCID: https://orcid.org/0000-0003-3962-7962)
- Kandai Nozu (ORCID: https://orcid.org/0000-0002-0290-3137)
- Kentaro Nakajima (ORCID: https://orcid.org/0009-0000-0387-7164)
- Hirayasu Kai
- Naoki Morito (ORCID: https://orcid.org/0000-0002-1967-8191)
- Soichiro Nomura
- Ryoya Tsunoda (ORCID: https://orcid.org/0000-0001-5206-0804)
- Eri Okada (ORCID: https://orcid.org/0000-0001-5097-2076)
- Kaori Mase (ORCID: https://orcid.org/0000-0002-0987-9707)
- Shun Ishibashi (ORCID: https://orcid.org/0000-0002-1063-1979)
- Kunihiro Yamagata (ORCID: https://orcid.org/0000-0002-7407-0410)
- Joichi Usui
- Naoya Morisada (ORCID: https://orcid.org/0000-0003-2936-6615)
- Takuya Harada (ORCID: https://orcid.org/0009-0004-8580-9040)
- Akinori Hattori
- Toshiaki Usui
Institutions
- University of Tsukuba (JP)
- Tsukuba Memorial Hospital (JP)
- University of Tsukuba Hospital (JP)
- Kobe Children's Hospital (JP)
- Ibaraki Prefectural Central Hospital (JP)
- Kobe University (JP)
Publication Details
- Journal
- Internal Medicine
- Published
- 2025-06-18
- DOI
- https://doi.org/10.2169/internalmedicine.5563-25
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00