Myopathy and Cystine Storage in Muscles in a Patient with Nephropathic Cystinosis

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Abstract
NEPHROPATHIC cystinosis is a lysosomal storage disorder characterized by the appearance of renal tubular Fanconi's syndrome in the first year of life and by growth retardation, progressive photophobia, and glomerular failure requiring dialysis or renal transplantation at approximately 10 years of age.1 , 2, The disease results from the defective transport of the disulfide amino acid cystine across the lysosomal membrane3 4 5 6 the consequent accumulation of cystine leads to the formation of crystals in many tissues. Treatment involves the replacement of renal tubular losses and the depletion of intracellular cystine stores with agents such as the aminothiol cysteamine (β-mercaptoethylamine).7 Oral cysteamine therapy . . .