Cystinosis: a new perspective

• Published in: Acta clinica belgica (English ed. Online) 2016-05, Vol.71 (3), p.131-137
• Main Authors: Veys, Koenraad R. P., Besouw, Martine T. P., Pinxten, Anne-Marie, Dyck, Maria Van, Casteels, Ingele, Levtchenko, Elena N.
• Format: Article
• Language: English
• Subjects: Adults; Age; Child; Child development; Child, Preschool; Cornea; Cysteamine; Cystinosis; Delayed-release; Fanconi Syndrome; Humans; Infant; Kidney diseases; Kidney Transplantation; Management; Molecular weight; Mutation; Nervous system; Pediatrics; Transition to adult care
• ISSN: 1784-3286; 2295-3337
• DOI: 10.1179/2295333714Y.0000000113

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.