线粒体基因突变所致的遗传性线粒体病

Mitochondrial disease associated with m.3243A>G mutation in MT-TL1 gene

青年女性患者,慢性起病,临床表现为多系统损害。肾脏损害表现为少至中等量尿蛋白,尿隐血基本阴性,血清肌酐正常,高尿酸血症,血压正常,无贫血。肾外表现身材矮小、糖尿病、高频听力下降及预激综合征,母亲身高150 cm。肾活检病理表现为局灶节段性肾小球硬化(FSGS),肾小球多处足细胞、壁层上皮细胞、肾小管上皮细胞胞质内线粒体形态异常。基因检测分析到线粒体MT-TL1基因m.3243A>G突变,母系遗传。最终诊断为线粒体基因突变所致的遗传性线粒体病。

A 19-year-old female patient was referred to our hospital with asymptomatic proteinuria,normal renal function,hyperuricemia.Extrarenal manifestations included short stature,diabetes mellitus,hearing loss,pre-excitation syndrome.Her mother was also short stature.The kidney biopsy revealed focal segmental glomerulosclerosis(FSGS),with dysmorphic abnormal mitochondria in the podocytes,parietal epithelial cells and renal tubular epithelial cells on electron microscopy.Gene testing revealed a m.3243A>G mutation in mitochondrial MT-TL1 gene,maternal inherited.The final diagnosis was mitochondrial disease associated with m.3243A>G mutation.