线粒体遗传糖尿病伴耳聋的研究进展

Advances in Maternally Inherited Diabetes and Deafness

线粒体遗传的糖尿病伴耳聋(maternally inherited diabetes and deafness, MIDD)在糖尿病患者人群中约占1%,多数伴有感音神经性耳聋,其遗传学特点主要是由于线粒体DNA(mitochondrial DNA,mtDNA)的突变。准确的遗传诊断对临床检查、诊断、管理和遗传咨询具有重要意义。本文概述了MIDD发病机制的研究进展,以及诊断方法和治疗手段,分析了MIDD的听力损失发生机制以及听力重建的效果。

Maternally inherited diabetes and deafness(MIDD) affects up to 1% of patients with diabetes. The main reason is mtDNA mutation. It is important to make an accurate genetic diagnosis, as there are implications for clinical investigation, diagnosis, management and genetic counselling. This review summarizes the research progress of pathogenesis of MIDD,the diagnosis methods and clinical management. The mechanism of MIDD hearing loss and the effect of hearing aids were analyzed.