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The History of Cystinosis : Lessons for Clinical Management
Author
Source
International Journal of Nephrology
Issue
Vol. 2011, Issue 2011 (31 Dec. 2011), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2011-10-13
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Goodyer, Paul. 2011. The History of Cystinosis : Lessons for Clinical Management. International Journal of Nephrology،Vol. 2011, no. 2011, pp.1-6.
https://search.emarefa.net/detail/BIM-508983
Modern Language Association (MLA)
Goodyer, Paul. The History of Cystinosis : Lessons for Clinical Management. International Journal of Nephrology No. 2011 (2011), pp.1-6.
https://search.emarefa.net/detail/BIM-508983
American Medical Association (AMA)
Goodyer, Paul. The History of Cystinosis : Lessons for Clinical Management. International Journal of Nephrology. 2011. Vol. 2011, no. 2011, pp.1-6.
https://search.emarefa.net/detail/BIM-508983
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-508983