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年轻起病成人型糖尿病(MODY)是一种常染色体显性遗传的单基因遗传病,主要是由于β细胞功能障碍所致。目前研究所知MODY至少由6个不同的基因突变引起,即肝细胞核因子(HNF)-4α/MODY1、葡萄糖激酶/MODY2、HNF-1α/MODY3、胰岛素启动因子-1(IPF-1)/MODY4、HNF-1β/MODY5及神经源性分化因子(β细胞E框反式激活物)/MODY6。本文阐述了各型MODY的分子机制和临床特征。
Young adult onset diabetes mellitus (MODY) is an autosomal dominant inherited single-gene disorder that is primarily due to beta-cell dysfunction. The current study shows that MODY is caused by at least 6 different mutations: HNF-4α / MODY1, Glucokinase / MODY2, HNF-1α / MODY3, IPF-1 / MODY4 , HNF-1β / MODY5 and neurogenic differentiation factor (β-cell E-box transactivator) / MODY6. This article describes the molecular mechanisms and clinical features of various types of MODY.