Controversies and research agenda in nephropathic cystinosis: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference

for Conference Participants

Research output: Contribution to journalArticle

18 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)1192-1203
Number of pages12
JournalKidney International
Volume89
Issue number6
DOIs
StatePublished - 2016

Fingerprint

Cystinosis
Cystine
Kidney Diseases
Research
Fanconi Syndrome
Cysteamine
Metabolic Diseases
Chronic Kidney Failure
Protons
Age Groups
Mutation
Therapeutics
Genes

Keywords

  • biomarker
  • cell signaling
  • chronic kidney disease
  • cystinosin
  • end-stage kidney disease
  • rare kidney diseases

ASJC Scopus subject areas

  • Nephrology

Cite this

Controversies and research agenda in nephropathic cystinosis : conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference. / for Conference Participants.

In: Kidney International, Vol. 89, No. 6, 2016, p. 1192-1203.

Research output: Contribution to journalArticle

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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.",
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author = "{for Conference Participants} and Langman, {Craig B.} and Barshop, {Bruce A.} and Georges Desch{\^e}nes and Francesco Emma and Paul Goodyer and Graham Lipkin and Midgley, {Julian P.} and Chris Ottolenghi and Aude Servais and Soliman, {Neveen A.} and Thoene, {Jess G.} and Levtchenko, {Elena N.} and Oliver Amon and Gema Ariceta and Maryan Basurto and Leticia Belmont-Mart{\'i}nez and Aur{\'e}lia Bertholet-Thomas and Marjolein Bos and Thomas Brown and Stephanie Cherqui and Cornelissen, {Elisabeth A M} and {Del Monte}, Monte and Jie Ding and Ranjan Dohil and Maya Doyle and Ewa Elenberg and Gahl, {William A.} and Victor Gomez and Marcella Greco and Christy Greeley and Greenbaum, {Larry A.} and Paul Grimm and Katharina Hohenfellner and Teresa Holm and Valerie Hotz and Janssen, {Mirian C.} and Kaskel, {Frederick J.} and Rita Magri{\cc}o and Galina Nesterova and Philip Newsholme and Patrick Niaudet and Patrice Rioux and Sarwal, {Minnie M.} and Jerry Schneider and Rezan Topaloglu and Trauner, {Doris A.} and Vaisbich, {Maria Helena} and {van den Heuvel}, {Lambertus P.} and {Van't Hoff}, William",
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