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

被引：0

作者：

Guo, Yifan ^{[1
]}

Chen, Yangli ^{[1
]}

Liang, Wen ^{[1
]}

Zeng, Lirong ^{[1
]}

Hu, Fang ^{[1
]}

Zeng, Yingjuan ^{[1
]}

Cong, Li ^{[1
]}

机构：

[1] Sun Yat Sen Univ, Affiliated Hosp 5, Dept Endocrinol & Metab, Zhuhai, Guangdong, Peoples R China

来源：

CLINICAL MEDICINE | 2024年 / 24卷 / 02期

关键词：

Maturity-onset diabetes of the young (MODY); ABCC8; Variant; Glucose; Case report;

D O I：

10.1016/j.clinme.2024.100033

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页数：3

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