Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference - PubMed (original) (raw)

. 2016 Jun;89(6):1192-203.

doi: 10.1016/j.kint.2016.01.033.

Bruce A Barshop 2, Georges Deschênes 3, Francesco Emma 4, Paul Goodyer 5, Graham Lipkin 6, Julian P Midgley 7, Chris Ottolenghi 8, Aude Servais 9, Neveen A Soliman 10, Jess G Thoene 11, Elena N Levtchenko 12; Conference Participants

Collaborators, Affiliations

Free article

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

Craig B Langman et al. Kidney Int. 2016 Jun.

Free article

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.

Keywords: biomarker; cell signaling; chronic kidney disease; cystinosin; end-stage kidney disease; rare kidney diseases.

Copyright © 2016 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.

PubMed Disclaimer

MeSH terms

Substances

LinkOut - more resources