Controversies and research agenda in nephropathic cystinosis: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference
Nephropathic cystinosis is an autosomal recessive metabolic, lifelong disease characterized by lysosomal cystine accumulation throughout the body that commonly presents in infancy with a renal Fanconi syndrome and, if untreated, leads to end-stage kidney disease (ESKD) in the later childhood years....
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Format: | Journal Article |
| Published: |
Nature Publishing Group
2016
|
| Online Access: | http://hdl.handle.net/20.500.11937/30119 |
| _version_ | 1848752996299571200 |
|---|---|
| author | Langman, C. Barshop, B. Deschênes, G. Emma, F. Goodyer, P. Lipkin, G. Midgley, J. Ottolenghi, C. Servais, A. Soliman, N. Thoene, J. Levtchenko, E. Amon, O. Ariceta, G. Basurto, M. Belmont-Martínez, L. Bertholet-Thomas, A. Bos, M. Brown, T. Cherqui, S. Cornelissen, E. Del Monte, M. Ding, J. Dohil, R. Doyle, M. Elenberg, E. Gahl, W. Gomez, V. Greco, M. Greeley, C. Greenbaum, L. Grimm, P. Hohenfellner, K. Holm, T. Hotz, V. Janssen, M. Kaskel, F. Magriço, R. Nesterova, G. Newsholme, Philip Niaudet, P. Rioux, P. Sarwal, M. Schneider, J. Topaloglu, R. Trauner, D. Vaisbich, M. van den Heuvel, L. Van't Hoff, W. |
| author_facet | Langman, C. Barshop, B. Deschênes, G. Emma, F. Goodyer, P. Lipkin, G. Midgley, J. Ottolenghi, C. Servais, A. Soliman, N. Thoene, J. Levtchenko, E. Amon, O. Ariceta, G. Basurto, M. Belmont-Martínez, L. Bertholet-Thomas, A. Bos, M. Brown, T. Cherqui, S. Cornelissen, E. Del Monte, M. Ding, J. Dohil, R. Doyle, M. Elenberg, E. Gahl, W. Gomez, V. Greco, M. Greeley, C. Greenbaum, L. Grimm, P. Hohenfellner, K. Holm, T. Hotz, V. Janssen, M. Kaskel, F. Magriço, R. Nesterova, G. Newsholme, Philip Niaudet, P. Rioux, P. Sarwal, M. Schneider, J. Topaloglu, R. Trauner, D. Vaisbich, M. van den Heuvel, L. Van't Hoff, W. |
| author_sort | Langman, C. |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | Nephropathic cystinosis is an autosomal recessive metabolic, lifelong disease characterized by lysosomal cystine accumulation throughout the body that commonly presents in infancy with a renal Fanconi syndrome and, if untreated, leads to end-stage kidney disease (ESKD) in the later childhood years. The molecular basis is due to mutations in CTNS, the gene encoding for the lysosomal cystine-proton cotransporter, cystinosin. During adolescence and adulthood, extrarenal manifestations of cystinosis develop and require multidisciplinary care. Despite substantial improvement in prognosis due to cystine-depleting therapy with cysteamine, no cure of the disease is currently available. Kidney Disease: Improving Global Outcomes (KDIGO) convened a Controversies Conference on cystinosis to review the state-of-the-art knowledge and to address areas of controversies in pathophysiology, diagnostics, monitoring, and treatment in different age groups. More importantly, promising areas of investigation that may lead to optimal outcomes for patients afflicted with this lifelong, systemic disease were discussed with a research agenda proposed for the future. |
| first_indexed | 2025-11-14T08:17:29Z |
| format | Journal Article |
| id | curtin-20.500.11937-30119 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| last_indexed | 2025-11-14T08:17:29Z |
| publishDate | 2016 |
| publisher | Nature Publishing Group |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-301192017-09-13T15:30:01Z Controversies and research agenda in nephropathic cystinosis: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference Langman, C. Barshop, B. Deschênes, G. Emma, F. Goodyer, P. Lipkin, G. Midgley, J. Ottolenghi, C. Servais, A. Soliman, N. Thoene, J. Levtchenko, E. Amon, O. Ariceta, G. Basurto, M. Belmont-Martínez, L. Bertholet-Thomas, A. Bos, M. Brown, T. Cherqui, S. Cornelissen, E. Del Monte, M. Ding, J. Dohil, R. Doyle, M. Elenberg, E. Gahl, W. Gomez, V. Greco, M. Greeley, C. Greenbaum, L. Grimm, P. Hohenfellner, K. Holm, T. Hotz, V. Janssen, M. Kaskel, F. Magriço, R. Nesterova, G. Newsholme, Philip Niaudet, P. Rioux, P. Sarwal, M. Schneider, J. Topaloglu, R. Trauner, D. Vaisbich, M. van den Heuvel, L. Van't Hoff, W. Nephropathic cystinosis is an autosomal recessive metabolic, lifelong disease characterized by lysosomal cystine accumulation throughout the body that commonly presents in infancy with a renal Fanconi syndrome and, if untreated, leads to end-stage kidney disease (ESKD) in the later childhood years. The molecular basis is due to mutations in CTNS, the gene encoding for the lysosomal cystine-proton cotransporter, cystinosin. During adolescence and adulthood, extrarenal manifestations of cystinosis develop and require multidisciplinary care. Despite substantial improvement in prognosis due to cystine-depleting therapy with cysteamine, no cure of the disease is currently available. Kidney Disease: Improving Global Outcomes (KDIGO) convened a Controversies Conference on cystinosis to review the state-of-the-art knowledge and to address areas of controversies in pathophysiology, diagnostics, monitoring, and treatment in different age groups. More importantly, promising areas of investigation that may lead to optimal outcomes for patients afflicted with this lifelong, systemic disease were discussed with a research agenda proposed for the future. 2016 Journal Article http://hdl.handle.net/20.500.11937/30119 10.1016/j.kint.2016.01.033 Nature Publishing Group restricted |
| spellingShingle | Langman, C. Barshop, B. Deschênes, G. Emma, F. Goodyer, P. Lipkin, G. Midgley, J. Ottolenghi, C. Servais, A. Soliman, N. Thoene, J. Levtchenko, E. Amon, O. Ariceta, G. Basurto, M. Belmont-Martínez, L. Bertholet-Thomas, A. Bos, M. Brown, T. Cherqui, S. Cornelissen, E. Del Monte, M. Ding, J. Dohil, R. Doyle, M. Elenberg, E. Gahl, W. Gomez, V. Greco, M. Greeley, C. Greenbaum, L. Grimm, P. Hohenfellner, K. Holm, T. Hotz, V. Janssen, M. Kaskel, F. Magriço, R. Nesterova, G. Newsholme, Philip Niaudet, P. Rioux, P. Sarwal, M. Schneider, J. Topaloglu, R. Trauner, D. Vaisbich, M. van den Heuvel, L. Van't Hoff, W. Controversies and research agenda in nephropathic cystinosis: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference |
| title | Controversies and research agenda in nephropathic cystinosis: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference |
| title_full | Controversies and research agenda in nephropathic cystinosis: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference |
| title_fullStr | Controversies and research agenda in nephropathic cystinosis: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference |
| title_full_unstemmed | Controversies and research agenda in nephropathic cystinosis: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference |
| title_short | Controversies and research agenda in nephropathic cystinosis: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference |
| title_sort | controversies and research agenda in nephropathic cystinosis: conclusions from a “kidney disease: improving global outcomes” (kdigo) controversies conference |
| url | http://hdl.handle.net/20.500.11937/30119 |