Van Stralen KJ, Emma F, Jager KJ et al.
Academic Medical Center, Amsterdam, The Netherlands.
Clin J Am Soc Nephrol 2011;6:2485–91.
Editor’s note: Cystinosis is a rare autosomal recessive disorder of the lysosomal cystine transporter cystinosin that occurs in 1–2 of 100 000 newborns. In the natural evolution of the infantile and juvenile forms of the disease, the kidneys are preferentially involved, with patients developing Fanconi syndrome during the first year of life and end-stage renal disease before the age of 10 years. Cysteamine, which depletes the cystine from affected lysosomes, is the only specific treatment for cystinosis and has been widely used since the end of the 1980s, when its efficacy in retarding renal deterioration was demonstrated. However, owing to the rarity of the disorder, long-term outcome data on the time to initiation of renal replacement therapy (RRT), survival of patients on RRT, and patient or graft survival after renal transplantation are scarce. This study is based on the compiled data of 245 patients with nephropathic cystinosis (NC) who were receiving RRT from 18 countries, recorded in the European Society for Paediatric Nephrology/European Renal Association–European Dialysis and Transplant Association registry between 1979 and 2008. The results were compared with a matched cohort of pediatric patients without NC who were receiving RRT.