ISSN 1006-298X      CN 32-1425/R

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肾脏病与透析肾移植杂志 ›› 2012, Vol. 21 ›› Issue (3): 291-294.

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IgA肾病合并线粒体病

  

  • 出版日期:2012-06-28 发布日期:2012-06-25

IgA nephropathy associated with mitochondrial cytopathy

  • Online:2012-06-28 Published:2012-06-25

摘要:

摘  要  16岁女性,起病初临床表现为典型肾病综合征,且足量激素治疗有效。肾脏病理组织学见肾小球节段轻度系膜增生伴免疫荧光IgG、IgA及C1q系膜区沉积,电镜见系膜区增宽及系膜区电子致密物沉积,足细胞足突广泛融合,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。尽管电镜标本重切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。

关键词: 关键词 , 线粒体病 , 肾活检 , IgA肾病

Abstract:

ABSTRACT: 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 C1q, 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 cytopathy.

Key words: Key words , mitochondrial cytopathy , renal biopsy , IgA nephropathy