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Case report: Maturity-Onset Diabetes of the Young (MODY12) caused by ABCC8 gene mutations by Xia Liu; Jie Wang; Wenchao Li; Kexin Zhang; Xiaodong Sun; Fang Han; Zongguang Hui; Chengxia Kan is a Medicine article available to read on EtoBox.

What is Case report: Maturity-Onset Diabetes of the Young (MODY12) caused by ABCC8 gene mutations about?

Background Maturity-onset diabetes of the young (MODY) is the most common form of monogenic diabetes and is currently thought to have 14 subtypes. Patients with MODY are easily misdiagnosed with type 1 diabetes. Case presentation We report a 25-year-old male patient with diabetes regarding a heterozygous missense mutation in the ABCC8 gene (c.2473C > T, p.Arg825Trp). Based on the genetic test results, the patient was diagnosed with MODY12 and treated with glimepiride with improved glycemic control. Conclusion This case report highlights an ABCC8 gene mutation in MODY12 that responds to sulfonylurea treatment.

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Author

Xia Liu; Jie Wang; Wenchao Li; Kexin Zhang; Xiaodong Sun; Fang Han; Zongguang Hui; Chengxia Kan

Publisher

Springer Science and Business Media LLC

Published

2023

Language

EN

Field

Medicine (Health Sciences)