Nephropathic Cystinosis — A Gap between Developing and Developed Nations

This letter discusses therapeutic disparities between developing countries and developed countries for patients with nephropathic cystinosis, one of a number of rare diseases for which therapy exists but is unevenly distributed. To the Editor: Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disease that, if untreated, leads to end-stage renal disease (ESRD) in the first decade of life because of intracellular accumulation of cystine caused by mutant cystinosin, the transporter of cystine. 1 , 2 Since 1979, most patients in developed countries have received cysteamine, which enables the transport of cystine from cells and thus lowers the amount of intracellular cystine. Cysteamine has postponed ESRD and extrarenal manifestations until patients are in their teens or beyond. 3 , 4 In contrast, patients in developing nations have remained largely untreated, mainly because of limited access . . .