Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients
Levtchenko, Elena (Department of Pediatrics, University Hospitals Leuven Campus Gasthuisberg (Bélgica))
Servais, Aude (Nephrology and Transplantation Department, Hôpital Necker Enfants Malades APHP (França))
Hulton, Sally A (Department of Nephrology, Birmingham Women's and Children's Hospital NHS Foundation Trust (Regne Unit))
Ariceta Iraola, Gema (Hospital Universitari Vall d'Hebron)
Emma, Francesco (Ospedale Pediatrico Bambino Gesù-IRCCS (Itàlia))
Game, David S (Department of Renal Medicine, Guy's and St Thomas' NHS Foundation Trust (Regne Unit))
Lange, Karin (Hannover Medical School (Alemanya))
Lapatto, Risto (Department of Pediatrics, Children's Hospital, Helsinki University Hospital and University of Helsinki)
Liang, Hong (CHNO des Quinze-Vingts, IHU ForeSight (França))
Sberro-Soussan, Rebecca (Paris Descartes University-Sorbonne Paris Cité)
Topaloglu, Rezan (Hacettepe University (Turquia))
Das, Anibh M (Clinic for Paediatric Kidney-, Liver- and Metabolic Diseases (Alemanya))
Webb, Nicholas J A (Department of Paediatric Nephrology, University of Manchester)
Wanner, Christoph (University Hospital Würzburg (Alemanya))
Universitat Autònoma de Barcelona

Data:	2022
Resum:	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 10-20 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.
Nota:	The programme was supported by Chiesi Farmaceutici Spa.
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Adult and adolescent ; Checklist ; Clinical recommendations ; Consensus statements ; Cysteamine ; Cystinosis ; Disease management ; Multidisciplinary care ; Rare diseases
Publicat a:	Clinical Kidney Journal, Vol. 15 (april 2022) , p. 1675-1684, ISSN 2048-8513

DOI: 10.1093/ckj/sfac099
PMID: 36003666

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