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dc.contributor.authorLangman, C.
dc.contributor.authorBarshop, B.
dc.contributor.authorDeschênes, G.
dc.contributor.authorEmma, F.
dc.contributor.authorGoodyer, P.
dc.contributor.authorLipkin, G.
dc.contributor.authorMidgley, J.
dc.contributor.authorOttolenghi, C.
dc.contributor.authorServais, A.
dc.contributor.authorSoliman, N.
dc.contributor.authorThoene, J.
dc.contributor.authorLevtchenko, E.
dc.contributor.authorAmon, O.
dc.contributor.authorAriceta, G.
dc.contributor.authorBasurto, M.
dc.contributor.authorBelmont-Martínez, L.
dc.contributor.authorBertholet-Thomas, A.
dc.contributor.authorBos, M.
dc.contributor.authorBrown, T.
dc.contributor.authorCherqui, S.
dc.contributor.authorCornelissen, E.
dc.contributor.authorDel Monte, M.
dc.contributor.authorDing, J.
dc.contributor.authorDohil, R.
dc.contributor.authorDoyle, M.
dc.contributor.authorElenberg, E.
dc.contributor.authorGahl, W.
dc.contributor.authorGomez, V.
dc.contributor.authorGreco, M.
dc.contributor.authorGreeley, C.
dc.contributor.authorGreenbaum, L.
dc.contributor.authorGrimm, P.
dc.contributor.authorHohenfellner, K.
dc.contributor.authorHolm, T.
dc.contributor.authorHotz, V.
dc.contributor.authorJanssen, M.
dc.contributor.authorKaskel, F.
dc.contributor.authorMagriço, R.
dc.contributor.authorNesterova, G.
dc.contributor.authorNewsholme, Philip
dc.contributor.authorNiaudet, P.
dc.contributor.authorRioux, P.
dc.contributor.authorSarwal, M.
dc.contributor.authorSchneider, J.
dc.contributor.authorTopaloglu, R.
dc.contributor.authorTrauner, D.
dc.contributor.authorVaisbich, M.
dc.contributor.authorvan den Heuvel, L.
dc.contributor.authorVan't Hoff, W.
dc.date.accessioned2017-01-30T13:17:30Z
dc.date.available2017-01-30T13:17:30Z
dc.date.created2016-07-31T19:31:01Z
dc.date.issued2016
dc.identifier.citationLangman, C. and Barshop, B. and Deschênes, G. and Emma, F. and Goodyer, P. and Lipkin, G. and Midgley, J. et al. 2016. Controversies and research agenda in nephropathic cystinosis: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference. Kidney International. 89 (6): pp. 1192-1203.
dc.identifier.urihttp://hdl.handle.net/20.500.11937/30119
dc.identifier.doi10.1016/j.kint.2016.01.033
dc.description.abstract

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.

dc.publisherNature Publishing Group
dc.titleControversies and research agenda in nephropathic cystinosis: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference
dc.typeJournal Article
dcterms.source.volume89
dcterms.source.number6
dcterms.source.startPage1192
dcterms.source.endPage1203
dcterms.source.issn0085-2538
dcterms.source.titleKidney International
curtin.departmentSchool of Biomedical Sciences
curtin.accessStatusFulltext not available


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