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

• Published in: Kidney international Vol. 89; no. 6; p. 1192
• Main Authors: Langman, Craig B, Barshop, Bruce A, Deschênes, Georges, Emma, Francesco, Goodyer, Paul, Lipkin, Graham, Midgley, Julian P, Ottolenghi, Chris, Servais, Aude, Soliman, Neveen A, Thoene, Jess G, Levtchenko, Elena N
• Format: Journal Article
• Language: English
• Published: United States 01-06-2016
• Subjects: Adolescent; Adult; Age Factors; Amino Acid Transport Systems, Neutral - genetics; Child; Congresses as Topic; Cysteamine - adverse effects; Cysteamine - therapeutic use; Cystine - metabolism; Cystine Depleting Agents - adverse effects; Cystine Depleting Agents - therapeutic use; Cystinosis - complications; Cystinosis - diagnosis; Cystinosis - etiology; Cystinosis - therapy; Fanconi Syndrome - complications; Fanconi Syndrome - drug therapy; Genetic Testing; Genetic Therapy; Graft vs Host Disease - prevention & control; Hematopoietic Stem Cell Transplantation; Humans; Immunosuppression - adverse effects; Infant; Kidney Failure, Chronic - etiology; Kidney Transplantation - adverse effects; Lysosomes - metabolism; Mutation; Rare Diseases - complications; Rare Diseases - diagnosis; Rare Diseases - etiology; Rare Diseases - therapy; Renal Dialysis; rare kidney diseases; chronic kidney disease; end-stage kidney disease; biomarker; cystinosin; cell signaling
• ISSN: 1523-1755
• DOI: 10.1016/j.kint.2016.01.033

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.