Phenotype and genotype of autosomal dominant tubulointerstitial kidney disease in a Japanese cohort
Clinical and pathological diagnosis of ADTKD remains challenging, emphasizing the importance of comprehensive genetic testing. Enhanced access to advanced genetic testing such as LRS is essential to improve diagnostic precision and management.
Authors
- Hideaki Kitakado (ORCID: https://orcid.org/0000-0001-7763-4675)
- Kandai Nozu (ORCID: https://orcid.org/0000-0002-0290-3137)
- China Nagano (ORCID: https://orcid.org/0000-0003-4946-1345)
- Chika Ueda (ORCID: https://orcid.org/0000-0003-3390-0235)
- Kazumoto Iijima (ORCID: https://orcid.org/0000-0003-0378-8174)
- Yu Tanaka (ORCID: https://orcid.org/0000-0001-5107-2491)
- Yuta Ichikawa (ORCID: https://orcid.org/0000-0001-5926-1203)
- Yuka Kimura (ORCID: https://orcid.org/0000-0001-6902-4850)
- Yuta Inoki (ORCID: https://orcid.org/0009-0005-8645-5464)
- Eri Okada (ORCID: https://orcid.org/0000-0001-5097-2076)
- Shuhei Aoyama
- Nana Sakakibara
- Shingo Ishimori (ORCID: https://orcid.org/0000-0003-3863-2743)
- Tomoko Horinouchi (ORCID: https://orcid.org/0000-0003-1655-6030)
- Naoya Morisada (ORCID: https://orcid.org/0000-0003-2936-6615)
- Tomohiko Yamamura
Institutions
- Kobe Children's Hospital (JP)
- Kobe University (JP)
Publication Details
- Journal
- Clinical and Experimental Nephrology
- Published
- 2025-02-20
- DOI
- https://doi.org/10.1007/s10157-025-02629-4
- Citations
- 6
- Primary Topic
- Renal Diseases and Glomerulopathies
- Type
- article
- Field-Weighted Citation Impact
- 8.58
Funders
- Japan Agency for Medical Research and Development
- Japan Society for the Promotion of Science