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

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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

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article

Diabetes associated with HNF1B: beyond Occam’s razor—A case report

K. Castillo, Clara Solà, Carme Figueredo, Ignacio Conget et al.
Acta Diabetologica
Pancreatic function and diabetes
article

Diabetes associated with HNF1B: beyond Occam’s razor—A case report

K. Castillo, Clara Solà, Carme Figueredo, Ignacio Conget, Carolina Sager-La Ganga
article en

Abstract

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

Acta DiabetologicaVol. 62(8)
Hospital Clínic de Barcelona (ES), Hospital Universitario de La Princesa (ES), Universidad Autónoma de Madrid (ES)
Universidad Autónoma de Madrid
Openalex Percentile: Top 95%
Pancreatic function and diabetes
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