青少年成熟型糖尿病:一种罕见的单基因型糖尿病

Mini Kallarackal
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引用次数: 0

摘要

糖尿病是一组与微血管和大血管并发症相关的代谢紊乱。这种疾病的流行率和发病率迅速增加,正在造成一个重大的世界卫生问题。成熟型糖尿病(MODY)是一种罕见的由单个基因突变引起的单基因糖尿病。目前已鉴定的MODY基因有13种。MODY的两种主要类型是由肝细胞核因子1A和糖酵解酶葡萄糖激酶(GCK)的突变引起的。基因检测是诊断MODY的黄金标准。确定MODY亚型对于确定管理和治疗方案至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Maturity Onset Diabetes of the Young: A Rare Monogenic Form of Diabetes
Diabetes Mellitus is a group of metabolic disorders associated with microvascular and macrovascular complications. The rapidly increasing prevalence and incidence of this disease is causing a major worldwide health problem. Maturity onset diabetes of the young (MODY) is a rare monogenic form of diabetes resulting from mutation in a single gene. There are 13 types of MODY genes identified currently. The two main types of MODY is caused by mutations in the hepatocyte nuclear factor 1A and glycolytic enzyme glucokinase (GCK). Genetic testing is the gold standard for diagnosing MODY. It is essential to identify the MODY subtype to determine the management and treatment options.
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