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

BMC Endocrine Disorders

Case Report

Haoran Peng¹  Zhang Wang²  Jianbo Li³ 

[1] Chengdu Medical College, 610083, Chengdu, China;Department of Geriatrics, The General Hospital of Western Theater Command, 610083, Chengdu, China;Southwest Medical University, 646000, Luzhou, China;

关键词: MODY3 child Sulfonylurea Compounds;   

DOI  :  10.1186/s12902-023-01293-7

 received in 2022-11-03, accepted in 2023-02-07,  发布年份 2023

来源: Springer

【 摘 要 】

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.

【 授权许可】

CC BY   
© The Author(s) 2023

【 图 表 】

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