Novel OFD1 Mutation Results in Unusually Early-Onset Polycystic Kidney Disease
This case of unusually early renal decline highlights the challenge of treating OFD 1. There are no currently approved medications and management consists of supportive measures to delay progression. Further research to better characterize and identify treatments for OFD 1 and related ciliopathies is warranted.
Authors
- Matthew Nguyen (ORCID: https://orcid.org/0009-0002-4262-4332)
- Nicholas Jones (ORCID: https://orcid.org/0000-0003-4846-5117)
- Ramy Magdy Hanna (ORCID: https://orcid.org/0000-0003-1807-8909)
- Dao Le (ORCID: https://orcid.org/0000-0002-6782-8203)
Institutions
- University of California, Irvine (US)
Publication Details
- Journal
- Case Reports in Nephrology and Dialysis
- Published
- 2025-08-14
- DOI
- https://doi.org/10.1159/000547878
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00