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

List of authors.
  • William A. Gahl, M.D., Ph.D.,
  • Marinos C. Dalakas, M.D.,
  • Lawrence Charnas, M.D.,
  • Karl T.K. Chen, M.D.,
  • Gholam H. Pezeshkpour, M.D.,
  • Toichiro Kuwabara, M.D.,
  • Suzanne L. Davis, M.B., Ch.B.,
  • Russell W. Chesney, M.D.,
  • John Fink, M.D.,
  • and H. Terry Hutchison, M.D.

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 . . .

Funding and Disclosures

We are indebted to Isa Bernardini for technical assistance.

Author Affiliations

From the Section on Human Biochemical Genetics, Human Genetics Branch, National Institute of Child Health and Human Development (W.A.G., L.C.), the National Institute of Neurological and Communicative Disorders and Stroke (M.C.D., J.F.), and the National Eye Institute (T.K.), National Institutes of Health, Bethesda, Md.; the Department of Pathology, Saint Agnes Medical Center, Fresno, Calif. (K.T.K.C.); the Neuromuscular Division, Armed Forces Institute of Pathology, Washington, D.C. (G.H.P.); the Departments of Neurology and Pediatrics, University of California at Davis, Sacramento, Calif. (S.L.D., R.W.C.); and the Department of Neurology, Fresno Community Hospital and Medical Center, Fresno, Calif. (H.T.H.). Address reprint requests to Dr. Gahl at Bldg. 10, Rm. 8C–429, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892.

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