title: Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.
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.
authors.affiliation: Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA; Division of Kidney Diseases, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA. Electronic address: c-langman@northwestern.edu.
authors.forename: Craig B
authors.initials: CB
authors.lastname: Langman
authors.affiliation: Department of Pediatrics, University of California, San Diego, La Jolla, California, USA.
authors.forename: Bruce A
authors.initials: BA
authors.lastname: Barshop
authors.affiliation: Department of Pediatrics, Division of Pediatric Nephrology, Robert Debré University Hospital, Paris, France.
authors.forename: Georges
authors.initials: G
authors.lastname: Deschênes
authors.affiliation: Department of Nephrology and Urology, Istituto di Ricovero e Cura a Carattere Scientifico Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Emma
authors.affiliation: Department of Pediatrics, McGill University, Montreal Children's Hospital, Montreal, Québec, Canada.
authors.forename: Paul
authors.initials: P
authors.lastname: Goodyer
authors.affiliation: Department of Nephrology, Queen Elizabeth Hospital, Birmingham, UK.
authors.forename: Graham
authors.initials: G
authors.lastname: Lipkin
authors.affiliation: Department of Pediatrics, Alberta Children's Hospital, Calgary, Alberta, Canada.
authors.forename: Julian P
authors.initials: JP
authors.lastname: Midgley
authors.affiliation: University Paris Descartes, Paris, France; Department of Biochemistry B, Necker-Enfants Malades Hospital, Paris, France.
authors.forename: Chris
authors.initials: C
authors.lastname: Ottolenghi
authors.affiliation: Department of Nephrology-Transplantation, Necker Hospital, Assistance Publique Hôpitaux de Paris, Paris Descartes University, Paris, France.
authors.forename: Aude
authors.initials: A
authors.lastname: Servais
authors.affiliation: Department of Pediatrics, Center of Pediatric Nephrology and Transplantation, Cairo University, Cairo, Egypt.
authors.forename: Neveen A
authors.initials: NA
authors.lastname: Soliman
authors.affiliation: Department of Pediatric Genetics, University of Michigan, Ann Arbor, Michigan, USA.
authors.forename: Jess G
authors.initials: JG
authors.lastname: Thoene
authors.affiliation: Department of Pediatric Nephrology, University Hospitals Leuven, Belgium; Department of Development and Regeneration, Katholieke Universiteit Leuven, Belgium. Electronic address: elena.levtchenko@uzleuven.be.
authors.forename: Elena N
authors.initials: EN
authors.lastname: Levtchenko
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D026921:Amino Acid Transport Systems, Neutral / Q000235:genetics*; D002648:Child; D003226:Congresses as Topic; D003543:Cysteamine / Q000009:adverse effects / Q000627:therapeutic use*; D003553:Cystine / Q000378:metabolism*; D065104:Cystine Depleting Agents / Q000009:adverse effects / Q000627:therapeutic use*; D003554:Cystinosis / Q000150:complications / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D005198:Fanconi Syndrome / Q000150:complications / Q000188:drug therapy; D005820:Genetic Testing; D015316:Genetic Therapy; D006086:Graft vs Host Disease / Q000517:prevention & control; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007165:Immunosuppression Therapy / Q000009:adverse effects; D007223:Infant; D007676:Kidney Failure, Chronic / Q000209:etiology; D016030:Kidney Transplantation / Q000009:adverse effects; D008247:Lysosomes / Q000378:metabolism; D009154:Mutation; D035583:Rare Diseases / Q000150:complications / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D006435:Renal Dialysis
chemical_list: D026921:Amino Acid Transport Systems, Neutral; C111445:CTNS protein, human; D065104:Cystine Depleting Agents; D003553:Cystine; D003543:Cysteamine
keywords: biomarker; cell signaling; chronic kidney disease; cystinosin; end-stage kidney disease; rare kidney diseases