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Cystinosis

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Inborn Metabolic Diseases

Abstract

Cystinosis is a generalized lysosomal storage disease caused by an incompletely understood defect of the export of cystine from lysosomes. The cystine accumulation leads to cellular dysfunction of many organs, the most serious of which involves the kidneys. Three phenotypic forms are discerned: the nephropathic or infantile form, an intermediate or juvenile-onset form, and a benign or adult form. The infantile form is the most frequent and is the main subject of this chapter.

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Authors
  1. M. Broyer
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Editor information

Editors and Affiliations

  1. Veldweg 87, 8051 NP, Hattem, The Netherlands

    John Fernandes (Professor Emeritus of Pediatrics) (Professor Emeritus of Pediatrics)

  2. Hospital Necker-Enfants Malades, 149 Rue de Sevres, 75743, Paris Cedex 15, France

    Jean-Marie Saudubray

  3. Institute of Cellular Pathology, Université Catholique de Louvain, Avenue Hippocrate 75, 1200, Brussels, Belgium

    Georges Van den Berghe (Christian de Duve) (Christian de Duve)

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© 2000 Springer-Verlag Berlin Heidelberg

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Broyer, M. (2000). Cystinosis. In: Fernandes, J., Saudubray, JM., Van den Berghe, G. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-04285-4_39

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  • DOI: https://doi.org/10.1007/978-3-662-04285-4_39

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-04287-8

  • Online ISBN: 978-3-662-04285-4

  • eBook Packages: Springer Book Archive

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