title: Nephropathic cystinosis: an international consensus document.
abstract: Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosin. It is the most common cause of inherited renal Fanconi syndrome in young children. Because of its rarity, the diagnosis and specific treatment of cystinosis are frequently delayed, which has a significant impact on the overall prognosis. In this document, we have summarized expert opinions on several aspects of the disease to improve knowledge and provide guidance for diagnosis and treatment.
authors.affiliation: Division of Nephrology and Dialysis, Bambino Gesu` Children's Hospital - IRCCS, Rome, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Emma
authors.affiliation: Section on Human Biochemical Genetics, Human Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-1851, USA.
authors.forename: Galina
authors.initials: G
authors.lastname: Nesterova
authors.affiliation: Kidney Diseases, Feinberg School of Medicine, Northwestern University and the Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA.
authors.forename: Craig
authors.initials: C
authors.lastname: Langman
authors.affiliation: Quinze-Vingts National Ophthalmology Hospital, Paris and Versailles Saint-Quentin-en-Yvelines University, Versailles, France Clinical Investigations Center, INSERM 503, Quinze-Vingts National Ophthalmology Hospital, Paris, France.
authors.forename: Antoine
authors.initials: A
authors.lastname: Labbé
authors.affiliation: Division of Genetics, Department of Pediatrics, University of California, San Diego, La Jolla, CA, USA.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Cherqui
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 Internal Medicine, Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands.
authors.forename: Mirian C
authors.initials: MC
authors.lastname: Janssen
authors.affiliation: Division of Nephrology and Dialysis, Bambino Gesu` Children's Hospital - IRCCS, Rome, Italy.
authors.forename: Marcella
authors.initials: M
authors.lastname: Greco
authors.affiliation: Division of Pediatric Nephrology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: Rezan
authors.initials: R
authors.lastname: Topaloglu
authors.affiliation: Renal Service, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Ewa
authors.initials: E
authors.lastname: Elenberg
authors.affiliation: Department of Pediatrics, Rady Children's Hospital, San Diego, University of California San Diego, San Diego, CA, USA.
authors.forename: Ranjan
authors.initials: R
authors.lastname: Dohil
authors.affiliation: Department of Neurosciences, University of California, San Diego, School of Medicine, San Diego, CA, USA.
authors.forename: Doris
authors.initials: D
authors.lastname: Trauner
authors.affiliation: Laboratory of Inherited Kidney Diseases, Inserm UMR 1163, Paris, France Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France APHP, Department of Genetics, Necker Hospital, Paris, France.
authors.forename: Corinne
authors.initials: C
authors.lastname: Antignac
authors.affiliation: Centre de référence des maladies rénales rares, Hospices Civils de Lyon and Université Claude-Bernard Lyon 1, Lyon, France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Cochat
authors.affiliation: Pediatric Nephrology, Children's Hospital at Montefiore, Bronx, NY, USA.
authors.forename: Frederick
authors.initials: F
authors.lastname: Kaskel
authors.affiliation: Department of Adult Nephrology, Hôpital Necker-Enfants Malades, APHP, Paris Descartes University, Paris, France.
authors.forename: Aude
authors.initials: A
authors.lastname: Servais
authors.affiliation: Division of Pediatric Nephrology, Center of Pediatrics and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany.
authors.forename: Elke
authors.initials: E
authors.lastname: Wühl
authors.affiliation: Université Paris Descartes, Hôpital Necker-Enfants Malades, Paris 75015, France.
authors.forename: Patrick
authors.initials: P
authors.lastname: Niaudet
authors.affiliation: Great Ormond Street Hospital, London, UK.
authors.forename: William
authors.initials: W
authors.lastname: Van't Hoff
authors.affiliation: Section on Human Biochemical Genetics, Human Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-1851, USA.
authors.forename: William
authors.initials: W
authors.lastname: Gahl
authors.affiliation: Department of Pediatric Nephrology and Growth and Regeneration, University Hospitals Leuven, Katholieke Universiteit Leuven, Leuven, Belgium.
authors.forename: Elena
authors.initials: E
authors.lastname: Levtchenko
mesh_terms: D002648:Child; D003554:Cystinosis / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D005198:Fanconi Syndrome / Q000175:diagnosis / Q000628:therapy; D006801:Humans; D017410:Practice Guidelines as Topic; D012955:Societies, Medical
keywords: CTNS gene; cysteamine treatment; cystinosis; extra-renal complications; renal Fanconi syndrome