Case Report: Nephrocalcinosis from pancreatic hypoplasia in HNF1B disease: a multigenerational expression with genetic confirmation in the youngest generation
This case report highlights the variable clinical presentation of HNF1B nephropathy across generations, illustrating the multisystem nature of the disease and emphasizing the importance of genetic testing for diagnosis and family screening.
Authors
- Imran Khawaja
- Sahil Grover
- P. Rastogi
- Maria T. Story (ORCID: https://orcid.org/0000-0002-3470-4300)
- Christie P. Thomas (ORCID: https://orcid.org/0000-0002-5989-9685)
- Naga Sumanth Reddy Gopireddy
- Mohamed Fawzi Mudarres
Institutions
- University of Iowa Hospitals and Clinics (US)
- Southeastern Health (US)
Publication Details
- Journal
- Frontiers in Medicine
- Published
- 2026-01-30
- DOI
- https://doi.org/10.3389/fmed.2025.1671893
- Primary Topic
- Pancreatic function and diabetes
- Type
- article
- Field-Weighted Citation Impact
- 0.00