Renal Involvement in Neuropathy, Ataxia, Retinitis Pigmentosa (NARP) Syndrome: A Case Report

摘要: We report a case of patient who had the mitochondrial cytopathy complex neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome diagnosed at age 11 years with biopsy-proven kidney involvement that progressed to end-stage renal disease 21 years. Mutations DNA (mtDNA) are maternally inherited lead cytopathies predominant neurologic manifestations: psychomotor retardation, epilepsy, myopathy. Given ubiquitous nature mitochondria, cellular dysfunction can also appear in tissues high metabolic turnover; thus, there be cardiac, digestive, ophthalmologic, complications. MT-ATP6 gene mtDNA have been shown cause NARP without involvement. whom glomerular proteinuria was present very early after diagnosis. Although manifestations were stable over time, he developed worsening function. He started dialysis therapy Kidney biopsy confirmed histologically, abnormal mitochondria seen on electron microscopy. The mutation detected specimen.