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A Case Report of Mitochondrial Diabetes Mellitus Caused by Gross Deletion of Mitochondrial Gene and Literature Review
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摘要: 线粒体糖尿病是由线粒体基因或核 DNA 突变引起的糖尿病， 可导致多系统受累，临床表型多样。 本文报道 1 例以生长障碍起病、 病程中出现糖尿病的患儿，经系统评估后发现同时合并双耳感音神经性听力下降、双侧基底节钙化及脑电图异常，乳酸运动试验提示运动后即刻乳酸明显升高，线粒体基因测序发现 m.8649-m.16084 大片段缺失。同时，对线粒体糖尿病的发病机制、遗传学特点、治疗，以及具有线粒体基因大片段缺失且存在糖尿病表型的线粒体疾病进行文献复习，为临床诊疗此类疾病提供参考。Abstract: Mitochondrial diabetes mellitus is a rare disease caused by mutations in mitochondrial genes or nuclear DNA encoding components of the mitochondrial respiratory chain， and the clinical phenotype is diverse depending on the involved organs. We report a girl manifested with growth failure and diabetes mellitus. After systematic evaluation, bilateral sensorineural hearing loss, bilateral basal ganglia calcification, and abnormal electroencephalogram were found. The lactate exercise test showed that lactate was obviously increased immediately after exercise, suggesting dysfunction of mitochondria. A gross deletion of mitochondrial gene m.8649-m.16084 was discovered by mitochondrial gene sequencing. We make a literature review of the pathogenesis, genetic characteristics, and treatment of mitochondrial diabetes mellitus, as well as mitochondrial diseases harboring large fragment deletions manifested with diabetic phenotypes, to provide reference for clinical diagnosis and treatment of such diseases.
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