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Cystinosis

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Pediatric Nephrology

Abstract

Nephropathic cystinosis (1–3) deserves a special place in the annals of clinical medicine as the first treatable lysosomal storage disease. The pathophysiology itself, based upon the formation of cystine crystals within the lysosomes of cells, is remarkable. The presence of cystine crystals provides a clue to the basic defect in cystinosis, i.e., failure to transport of cystine out of lysosomes (4–6).

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Authors and Affiliations

  1. Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA

    William A. Gahl

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  1. William A. Gahl
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Editors and Affiliations

  1. Medical College of Wisconsin, Wisconsin, USA

    Ellis Avner (Director, Children's Research Institute, CHHS, Associate Dean for Research, Professor of Pediatrics and Physiology) (Director, Children's Research Institute, CHHS, Associate Dean for Research, Professor of Pediatrics and Physiology)

  2. Harvard Medical School, Children's Hospital Boston, 300 Longwood Avenue, Boston, Massachusetts, 02115, USA

    William Harmon (Professor of Pediatrics, Director, Pediatric Nephrology) (Professor of Pediatrics, Director, Pediatric Nephrology)

  3. Service de Néphrologie Pédiatrique Centre de référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Hôpital Necker‐Enfants Malades, 149, rue de Sèvres, 75743, Paris Cedex 15, France

    Patrick Niaudet

  4. Department of Pediatrics Wakayama Medical University, Wakayama Medical University Hospital, 641–8510811–1, Kimiidera, Wakayama City, Japan

    Norishige Yoshikawa (Professor and Chair Pediatrician‐in‐Chief) (Professor and Chair Pediatrician‐in‐Chief)

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Gahl, W.A. (2009). Cystinosis. In: Avner, E., Harmon, W., Niaudet, P., Yoshikawa, N. (eds) Pediatric Nephrology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-76341-3_41

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  • DOI: https://doi.org/10.1007/978-3-540-76341-3_41

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