IgA肾病合并线粒体病

IgA nephropathy associated with mitochondrial cytopathy

16岁女性,典型肾病综合征起病,且足量激素治疗有效。肾活检病理组织学见肾小球节段轻度系膜增生性病变,免疫荧光IgG、IgA及C1q系膜区沉积,电镜下系膜区增宽,并见系膜区电子致密物沉积,肾小球足细胞足突广泛融合,病理诊断为IgA肾病(微小病变型)。2年后患者肾病综合征复发,并出现多系统损害,血白细胞基因检测示8969G>A基因突变,符合线粒体病。尽管重切电镜标本观察到肾小管上皮细胞胞浆中异常线粒体蓄积,但不能证实肾脏疾病与线粒体相关,最终诊断为IgA肾病合并线粒体病。

A 16-year-old female, who presented with nephrotic syndrome and relieved with prednisone therapy, was reported. The renal biopsy was performed. The light microscope showed mild mesangial proliferation, immunofluorescence staining showed typical high-intensity staining for IgG,IgA and C1 q, and electron microscope showed mesangial electron-dense deposits and extensive foot processes effacement of podocyte. Two years later, her nephritic syndrome relapsed, and the damage of multiple organ systems was developed. The analysis of her mitochondrial DNA revealed an G-to-A mutation of the tRNA leu（UUR） gene at the 8969 position. The patient was finally diagnosed as IgA nephropathy associated with mitochondrial cytopathv.