title: Cystinosis: a new perspective.
abstract: Cystinosis is a rare, autosomal recessive inherited lysosomal storage disease. It is the most frequent and potentially treatable cause of the inherited renal Fanconi syndrome. If left untreated, renal function rapidly deteriorates towards end-stage renal disease by the end of the first decade of life. Due to its rarity and non-specific presentation, the entity is often not promptly recognized resulting in delayed diagnosis. Two major milestones in cystinosis management, cystine-depleting therapy with cysteamine and renal allograft transplantation, have had a considerable impact on the natural history and prognosis of cystinosis patients. However, due to its significant side effects and a strict 6-hourly dosing regimen, non-adherence to the immediate release of cysteamine bitartrate formulation (Cystagon®) is a major issue that might affect long-term outcome. Recently, a new twice-daily administered delayed-release enteric-coated formula of cysteamine bitartrate (Procysbi(TM)) has been approved by the European Medical Agency for the treatment of cystinosis, and has been shown to be safe and effective. This delayed-release cysteamine has the potential to improve compliance and hence prognosis, through its better dosing regimen, positive impact on quality of life and possibly less side-effects, and is now tested in an ongoing long-term clinical trial. Longer survival of patients with cystinosis makes transition from pediatric to adult-oriented care another challenge in cystinosis management and requires an extended multidisciplinary approach.
authors.affiliation: a Department of Pediatrics, Pediatric Nephrology , University Hospitals Leuven , Belgium.
authors.forename: Koenraad R P
authors.initials: KR
authors.lastname: Veys
authors.affiliation: b Department of Pediatric Nephrology , University Hospital Ghent , Belgium.
authors.forename: Martine T P
authors.initials: MT
authors.lastname: Besouw
authors.affiliation: c Department of Ophthalmology , University Hospitals Leuven , Belgium.
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Pinxten
authors.affiliation: a Department of Pediatrics, Pediatric Nephrology , University Hospitals Leuven , Belgium.
authors.forename: Maria Van
authors.initials: MV
authors.lastname: Dyck
authors.affiliation: c Department of Ophthalmology , University Hospitals Leuven , Belgium.
authors.forename: Ingele
authors.initials: I
authors.lastname: Casteels
authors.affiliation: a Department of Pediatrics, Pediatric Nephrology , University Hospitals Leuven , Belgium.|d Department of Growth & Regeneration , Katholieke Universiteit Leuven , Belgium.
authors.forename: Elena N
authors.initials: EN
authors.lastname: Levtchenko
mesh_terms: D002648:Child; D002675:Child, Preschool; D003543:Cysteamine; D003554:Cystinosis; D005198:Fanconi Syndrome; D006801:Humans; D007223:Infant; D016030:Kidney Transplantation
chemical_list: D003543:Cysteamine
keywords: Cysteamine; Cystinosis; Delayed-release; Management; Transition to adult care