A Case of Hyperinsulinemic Hypoglycaemia Associated with Atypical Fanconi Renal Tubulopathy Syndrome Caused by an HNF4A Variant
The patient was identified as a carrier of the c.187C>T (p.Arg63Trp) variant in the <i>HNF4A</i> gene, which is a heterozygous missense variant classified as pathogenic. This entity is rare, and the published literature reporting <i>HNF4A</i> gene variants associated with atypical FRTS and HH is limited. It is therefore important to report such cases to contribute to the growing body of evidence and help identify pathogenic HNF4A variants and their implications.
Authors
- Marina Giralt (ORCID: https://orcid.org/0000-0003-2865-2193)
- Noelia Díaz‐Troyano (ORCID: https://orcid.org/0000-0002-9392-0142)
- Sarai Garriga-Edo (ORCID: https://orcid.org/0000-0002-2445-5355)
- María Clemente (ORCID: https://orcid.org/0000-0002-3721-5043)
- Belén Pérez‐Dueñas (ORCID: https://orcid.org/0000-0002-4979-2788)
- Roser Ferrer (ORCID: https://orcid.org/0000-0002-8925-3172)
- Miguel Mate
- Lydia Peris-Serra
- Héctor Ríos Duro
Institutions
- Hebron University (PS)
- Universitat Autònoma de Barcelona (ES)
- Vall d'Hebron Institut de Recerca (ES)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Vall d'Hebron Hospital Universitari (ES)
- CIBBIM-Nanomedicine (ES)
Publication Details
- Journal
- Case Reports in Nephrology and Dialysis
- Published
- 2025-11-26
- DOI
- https://doi.org/10.1159/000549545
- Primary Topic
- Pancreatic function and diabetes
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Instituto de Salud Carlos III