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.

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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
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article

Maturity-onset diabetes of the young due to HNF1β variants ( HNF1β -MODY): a 2-year follow-up study of six patients from a single diabetes center

Handan Jiang, Xiaoou Shan, Yue Luo, Xiu‐Feng Huang et al.
Journal of Pediatric Endocrinology and Metabolism
Pancreatic function and diabetes
article

Maturity-onset diabetes of the young due to HNF1β variants ( HNF1β -MODY): a 2-year follow-up study of six patients from a single diabetes center

Handan Jiang, Xiaoou Shan, Yue Luo, Xiu‐Feng Huang, Huiping Wu
article en

Abstract

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.

Journal of Pediatric Endocrinology and MetabolismVol. 38(12)
Wenzhou Medical University (CN), Second Affiliated Hospital & Yuying Children's Hospital of Wenzhou Medical University (CN)
Openalex Percentile: Top 54%
Pancreatic function and diabetes
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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 — Handan Jiang, Xiaoou Shan, et al. · Journal of Pediatric Endocrinology and Metabolism (2025) | TGRS Research Map | TGRS