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MODY2的认识及诊治研究进展

晓宇 贾(内蒙古医科大学 内蒙古自治区人民医院,中国)
冬梅 李(内蒙古医科大学 内蒙古自治区人民医院,中国)
圆圆 李(内蒙古医科大学 内蒙古自治区人民医院,中国)

摘要

青少年发病的成人型糖尿病(MODY)是呈常染色体显性遗传的一种特殊类型糖尿病,因其表型与1型糖尿病和2型糖尿病相重叠,故常被误诊。自20世纪90年代分子基因检测技术取得突破以来,现14个基因已被证实与MODY相关。这些基因基本上嵌入β细胞,其中常见的是HNF1A、HNF4A、HNF1B和GCK基因。最常见的类型之一是MODY2,是由葡萄糖激酶(GCK)基因突变引起的,因此被称为GCK-MODY,GCK基因的突变导致β细胞功能障碍,导致胰岛素分泌减少和高血糖。论文旨在阐述MODY2(GCK-MODY)的作用机制、诊断、治疗的最新信息,这将加强医务工作者对MODY2患者的管理,提高患者生活质量,减轻疾病负担。

关键词

GCK-MODY;GCK-MODY诊断;GCK-MODY治疗

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DOI: http://dx.doi.org/10.12345/yzlcyxzz.v5i3.11523

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