A novel mutation in the ABCC8 gene causing maturity-onset diabetes of the young: A case report.

IF 3.6 4区医学 Q1 MEDICINE, GENERAL & INTERNAL

Clinical Medicine Pub Date : 2024-03-01 Epub Date: 2024-03-20 DOI:10.1016/j.clinme.2024.100033

Yifan Guo, Yangli Chen, Wen Liang, Lirong Zeng, Fang Hu, Yingjuan Zeng, Li Cong

引用次数: 0

Abstract

A 34-year-old woman was diagnosed with type 1 diabetes mellitus and treated with insulin for 24 years. The patient has a family history of diabetes in three consecutive generations. Her Whole exon sequencing showed a heterozygous mutation in the ABCC8 gene, and it also found some of her relatives to carry this mutation. She was diagnosed with MODY12 and received glimepiride therapy with the achievement of good glycaemic control.

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ABCC8基因突变导致青年成熟型糖尿病：病例报告。

一名 34 岁的女性被诊断为 1 型糖尿病，接受胰岛素治疗 24 年。该患者有连续三代糖尿病家族史。她的全外显子测序显示 ABCC8 基因存在杂合突变，而且还发现她的一些亲属也携带这种突变。她被诊断为 MODY12，接受格列美脲治疗后血糖控制良好。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinical Medicine 医学-医学：内科

CiteScore

7.20

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Clinical Medicine is aimed at practising physicians in the UK and overseas and has relevance to all those managing or working within the healthcare sector. Available in print and online, the journal seeks to encourage high standards of medical care by promoting good clinical practice through original research, review and comment. The journal also includes a dedicated continuing medical education (CME) section in each issue. This presents the latest advances in a chosen specialty, with self-assessment questions at the end of each topic enabling CPD accreditation to be acquired. ISSN: 1470-2118 E-ISSN: 1473-4893 Frequency: 6 issues per year