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Cystinosis and the Fanconi Syndrome

  • Chapter
Physiology of Membrane Disorders

Abstract

Cystinosis is a recessively inherited metabolic disorder characterized biochemically by a high intracellular content of free (nonprotein) cystine which appears to be compartmentalized within lysosomes. This results in crystal deposition in the cornea, conjunctiva, bone marrow, lymph nodes, leukocytes, and internal organs. The primary metabolic defect which leads to cystine accumulation is unknown.

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Authors and Affiliations

  1. School of Medicine, University of California, San Diego, La Jolla, California, 92093, USA

    Jerry A. Schneider

  2. National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, 20014, USA

    Joseph D. Schulman

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  1. Jerry A. Schneider
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Editors and Affiliations

  1. Division of Nephrology, University of Alabama School of Medicine, Birmingham, Alabama, 35294, USA

    Thomas E. Andreoli M.D. (Professor of Medicine, Director, Professor of Physiology and Biophysics) (Professor of Medicine, Director, Professor of Physiology and Biophysics)

  2. Department of Physiology, Yale University School of Medicine, New Haven, Connecticut, 06510, USA

    Joseph F. Hoffman Ph.D. (Eugene Higgins Professor and Chairman) (Eugene Higgins Professor and Chairman)

  3. Division of Nephrology, University of California, San Diego, La Jolla, California, 92037, USA

    Darrell D. Fanestil M.D. (Professor of Medicine, Head) (Professor of Medicine, Head)

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Schneider, J.A., Schulman, J.D. (1978). Cystinosis and the Fanconi Syndrome. In: Andreoli, T.E., Hoffman, J.F., Fanestil, D.D. (eds) Physiology of Membrane Disorders. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-3958-8_48

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  • DOI: https://doi.org/10.1007/978-1-4613-3958-8_48

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