Diabetes associated with HNF1B: beyond Occam’s razor—A case report
This report presents a clinical case of diabetes associated with HNF1B in a patient who was initially enrolled in a clinical trial for type 1 diabetes (T1D) and received immunosuppressive treatment for four years. At the time, knowledge of monogenic diabetes was limited, leading to diagnoses that did not account for these genetic forms. This case also highlights the broad phenotypic spectrum of these genetic alterations and emphasizes the importance of considering this diagnosis even in the absence of a clear family history
Authors
- K. Castillo (ORCID: https://orcid.org/0000-0001-7160-8839)
- Clara Solà
- Carme Figueredo
- Ignacio Conget (ORCID: https://orcid.org/0000-0002-5532-5449)
- Carolina Sager-La Ganga (ORCID: https://orcid.org/0009-0007-9737-2845)
Institutions
- Hospital Clínic de Barcelona (ES)
- Hospital Universitario de La Princesa (ES)
- Universidad Autónoma de Madrid (ES)
Publication Details
- Journal
- Acta Diabetologica
- Published
- 2025-02-20
- DOI
- https://doi.org/10.1007/s00592-025-02472-9
- Primary Topic
- Pancreatic function and diabetes
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Universidad Autónoma de Madrid