De novo HNF1A mutation of young maturity-onset diabetes 3 of a young girl—Case report

Author:

Peng Haoran,Li Jianbo,Wang Zhang

Abstract

AbstractYoung 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.

Publisher

Springer Science and Business Media LLC

Subject

General Medicine,Endocrinology, Diabetes and Metabolism

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