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10 p, 676.5 KB 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
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. [...]
2022 - 10.1093/ckj/sfac099
Clinical Kidney Journal, Vol. 15 (april 2022) , p. 1675-1684  
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