线粒体细胞病表现为局灶节段性肾小球硬化、甲状旁腺功能减退、感音神经性耳聋和进行性神经疾病。
Mitochondrial cytopathy presenting with focal segmental glomerulosclerosis, hypoparathyroidism, sensorineural deafness, and progressive neurological disease.
作者信息
Hameed R, Raafat F, Ramani P, Gray G, Roper H P, Milford D V
机构信息
Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK.
出版信息
Postgrad Med J. 2001 Aug;77(910):523-6. doi: 10.1136/pmj.77.910.523.
Abstract
A 6 year old boy who presented with steroid unresponsive nephrotic syndrome is reported. He was found to have focal segmental glomerulosclerosis and associated hypoparathyroidism and sensorineural deafness. The child progressed to end stage renal failure and was successfully managed by dialysis and cadaveric renal transplantation. He later developed progressive neurological deterioration and mitochondrial myopathy and neuropathy was diagnosed.
摘要
报告了一名6岁男孩，他患有类固醇抵抗性肾病综合征。发现他患有局灶节段性肾小球硬化症，并伴有甲状旁腺功能减退和感音神经性耳聋。该患儿进展为终末期肾衰竭，并通过透析和尸体肾移植成功治疗。他后来出现进行性神经功能恶化，被诊断为线粒体肌病和神经病变。
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