Cystinosis: a new perspective

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 lif...

Full description

Saved in:
Bibliographic Details
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
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1784-3286
2295-3337
DOI:10.1179/2295333714Y.0000000113