The History of Cystinosis: Lessons for Clinical Management
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 sustai...
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| Format: | Article |
| Language: | English |
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Wiley
2011-01-01
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| Series: | International Journal of Nephrology |
| Online Access: | http://dx.doi.org/10.4061/2011/929456 |
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| author | Paul Goodyer |
| author_facet | Paul Goodyer |
| author_sort | Paul Goodyer |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-648c963027e94e9aad5583f34fce2245 |
| institution | Kabale University |
| issn | 2090-214X 2090-2158 |
| language | English |
| publishDate | 2011-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Nephrology |
| spelling | doaj-art-648c963027e94e9aad5583f34fce22452025-02-03T01:20:15ZengWileyInternational Journal of Nephrology2090-214X2090-21582011-01-01201110.4061/2011/929456929456The History of Cystinosis: Lessons for Clinical ManagementPaul Goodyer0Department of Pediatrics, McGill University, Montreal, QC, H3H 1P3, CanadaCystinosis 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.http://dx.doi.org/10.4061/2011/929456 |
| spellingShingle | Paul Goodyer The History of Cystinosis: Lessons for Clinical Management International Journal of Nephrology |
| title | The History of Cystinosis: Lessons for Clinical Management |
| title_full | The History of Cystinosis: Lessons for Clinical Management |
| title_fullStr | The History of Cystinosis: Lessons for Clinical Management |
| title_full_unstemmed | The History of Cystinosis: Lessons for Clinical Management |
| title_short | The History of Cystinosis: Lessons for Clinical Management |
| title_sort | history of cystinosis lessons for clinical management |
| url | http://dx.doi.org/10.4061/2011/929456 |
| work_keys_str_mv | AT paulgoodyer thehistoryofcystinosislessonsforclinicalmanagement AT paulgoodyer historyofcystinosislessonsforclinicalmanagement |