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International Journal of Nephrology
Volume 2011, Article ID 929456, 6 pages
Review Article

The History of Cystinosis: Lessons for Clinical Management

1Department of Pediatrics, McGill University, Montreal, QC, Canada H3H 1P3
2Montreal Children’s Hospital, 2300 Tupper Street, Montreal, QC, Canada H3H 1P3

Received 6 June 2011; Accepted 1 August 2011

Academic Editor: Michel Fischbach

Copyright © 2011 Paul Goodyer. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Cystinosis is a rare disorder, and, accordingly, progress on the understanding and treatment of this disease has been relatively slow. Although cystinosis was identified over 100 years ago, the history of cystinosis is marked by a few sudden leaps forward in our understanding rather than by a sustained research effort fuelled by the larger research community. Major conceptual break-throughs include (a) its discovery in 1903, (b) recognition of the renal Fanconi syndrome, (c) realization that tissue accumulation of cystine reflects a defective channel in the lysosomal membrane, (d) translation of this discovery to trials of cysteamine, (e) discovery of the CTNS gene, and (f) report of successful stem cell therapy in the cystinotic mouse. This paper focuses on the importance management lessons from these milestones and the potential new therapeutic strategies which may be looming in the near future.