{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T10:32:59Z","timestamp":1792146779925,"version":"4.4.0"},"reference-count":39,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2022,4,15]],"date-time":"2022-04-15T00:00:00Z","timestamp":1649980800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007560","name":"Chiesi Farmaceutici","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007560","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,8,22]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:p>Cystinosis, a rare autosomal recessive lysosomal storage disorder, results in an abnormal accumulation of the amino acid cystine in multiple organs and tissues of the body. Renal symptoms typically develop in the first few months of life, with extra-renal manifestations becoming apparent over the next 10\u201320 years, which require coordinated multidisciplinary care. Here, we describe a consensus-based guidance to support the management of adolescents and adults living with cystinosis. The programme was led by a Steering Committee (SC) of six experts in the management of patients with cystinosis, who identified a list of 15 key questions reflecting the multi-organ effects of cystinosis. An Extended Faculty (EF) of eight additional specialists was invited to answer the questions via an online digital platform using a quasi-Delphi approach. The consolidated answers were summarized into recommendations. Where evidence was lacking, recommendations were developed using collective expert consensus. The EF was asked to agree\/disagree with the clinical recommendations. The expert-agreed clinical recommendations provide guidance that considers both renal and extra-renal systems. The topics covered are advice on fertility and family planning, consideration of the nervous, muscular, ophthalmic, cardio-respiratory, endocrine, dermatological and gastrointestinal systems, as well as guidance on dental care, diet, lifestyle, and improving quality of life and psychological well-being. In summary, this work outlines recommendations and a checklist for clinicians with a vision for improving and standardizing the multidisciplinary care for patients with cystinosis.<\/jats:p>","DOI":"10.1093\/ckj\/sfac099","type":"journal-article","created":{"date-parts":[[2022,4,14]],"date-time":"2022-04-14T11:12:55Z","timestamp":1649934775000},"page":"1675-1684","source":"Crossref","is-referenced-by-count":30,"title":["Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients"],"prefix":"10.1093","volume":"15","author":[{"given":"Elena","family":"Levtchenko","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University Hospitals Leuven Campus Gasthuisberg, KU Leuven , Leuven , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aude","family":"Servais","sequence":"additional","affiliation":[{"name":"Nephrology and Transplantation Department, H\u00f4pital Necker Enfants Malades APHP , Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sally A","family":"Hulton","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Birmingham Women's and Children's Hospital NHS Foundation Trust , Steelhouse Lane, B4 6NH, Birmingham , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gema","family":"Ariceta","sequence":"additional","affiliation":[{"name":"Paediatric Nephrology Department, University Hospital Vall d'Hebron, Professor of Paediatrics, The Autonomous University of Barcelona , Barcelona , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0383-3468","authenticated-orcid":false,"given":"Francesco","family":"Emma","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Dialysis , Ospedale Pediatrico Bambino Ges\u00f9-IRCCS, Rome , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David S","family":"Game","sequence":"additional","affiliation":[{"name":"Department of Renal Medicine , Guy's and St Thomas\u2019 NHS Foundation Trust, London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Lange","sequence":"additional","affiliation":[{"name":"Medical Psychology, Hannover Medical School , Hannover , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Risto","family":"Lapatto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Children's Hospital, Helsinki University Hospital and University of Helsinki , Helsinki , Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Liang","sequence":"additional","affiliation":[{"name":"Service d'ophtalmologie III, CHNO des Quinze-Vingts, IHU ForeSight , Paris , France"},{"name":"Inserm-DHOS CIC 1423CHNO des Quinze-Vingts, IHU ForeSight , Paris , France"},{"name":"Inserm, U968; UPMC, universit\u00e9 Paris 06, UMR_S968, institut de la vision; CNRS , UMR 7210; CHNO des Quinze-Vingts, Inserm-DHOS CIC 503, Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Sberro-Soussan","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Kidney Transplantation, University Hospital Center (CHU) Necker, Paris Descartes University-Sorbonne Paris Cit\u00e9 , Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6423-0927","authenticated-orcid":false,"given":"Rezan","family":"Topaloglu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, Faculty of Medicine, Hacettepe University , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anibh M","family":"Das","sequence":"additional","affiliation":[{"name":"Clinic for Paediatric Kidney- , Liver- and Metabolic Diseases, Hannover , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas J A","family":"Webb","sequence":"additional","affiliation":[{"name":"Department of Paediatric Nephrology, University of Manchester, Manchester Academic Health Science Centre, Royal Manchester Children's Hospital , Manchester , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9507-5301","authenticated-orcid":false,"given":"Christoph","family":"Wanner","sequence":"additional","affiliation":[{"name":"Division of Nephrology, University Hospital W\u00fcrzburg , W\u00fcrzburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,4,15]]},"reference":[{"key":"2022082216173937600_bib1","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1016\/j.kint.2016.01.033","article-title":"Controversies and research agenda in nephropathic cystinosis: conclusions from a \u201cKidney disease: improving 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