Maturity-onset diabetes of the young due to <i>HNF1β</i> variants ( <i>HNF1β</i> -MODY): a 2-year follow-up study of six patients from a single diabetes center
The clinical phenotype of <i>HNF1β</i>-MODY encompasses early-onset diabetes mellitus, pancreatic dysplasia, kidney disease, liver dysfunction, and genitourinary tract malformations, with refractory hypomagnesemia and hyperuricemia representing pathognomonic features. Early genetic confirmation can facilitate timely insulin initiation, guide targeted correction of electrolyte imbalances and metabolic disorders, and trigger proactive multi-organ monitoring for disease evolution.
Authors
- Handan Jiang
- Xiaoou Shan
- Yue Luo (ORCID: https://orcid.org/0000-0003-3498-4821)
- Xiu‐Feng Huang (ORCID: https://orcid.org/0000-0002-7852-6358)
- Huiping Wu
Institutions
- Wenzhou Medical University (CN)
- Second Affiliated Hospital & Yuying Children's Hospital of Wenzhou Medical University (CN)
Publication Details
- Journal
- Journal of Pediatric Endocrinology and Metabolism
- Published
- 2025-10-16
- DOI
- https://doi.org/10.1515/jpem-2025-0213
- Primary Topic
- Pancreatic function and diabetes
- Type
- article
- Field-Weighted Citation Impact
- 0.00