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- Title
De novo HNF1A mutation of young maturity-onset diabetes 3 of a young girl—Case report.
- Authors
Peng, Haoran; Li, Jianbo; Wang, Zhang
- Abstract
Young maturity-onset diabetes of the young type3(MODY3) as a special type of diabetes, the probability of diagnosis is low. This article reports on a case and reviews the relevant knowledge of the disease. We report an 11-year-and-11-month-old girl whose grandmother died from diabetic complications while the rest of the families were non-diabetes. The proband was initially treated with insulin and metformin but the threatment proved inefficient. After an exome-targeted capture sequencing test, she was diagnosed with mature-onset diabetes of young type 3 (MODY3), and sulfonylureas make sense. The key to mody treatment is a correct and timely diagnosis, which contributes to helping patients overcome the problems of MODY3, especially for blood sugar control.
- Subjects
GENETICS of diabetes; DIAGNOSIS of diabetes; INSULIN therapy; GENETIC mutation; DIABETES; SULFONYLUREAS; AGE factors in disease; METFORMIN; CHILDREN
- Publication
BMC Endocrine Disorders, 2023, Vol 23, Issue 1, p1
- ISSN
1472-6823
- Publication type
Article
- DOI
10.1186/s12902-023-01293-7