Follow-up and treatment of adults with cystinosis in the Netherlands

Background. Cystinosis is a rare autosomal recessive disease, caused by intracellular cystine accumulation due to a defect in the lysosomal cystine carrier. Treatment with cysteamine favours the transport of cystine out of the lysosomes, diminishes organ damage, and postpones the progression of renal failure. The extra‐renal deposition of cystine continues after renal transplantation, leading to later complications. The objective of this study was to evaluate the follow‐up, the occurrence of late complications, the social status, and the adequacy of cysteamine treatment in adult patients with... Mehr ...