Nephropathic cystinosis is an inherited lysosomal storage disorder caused by biallelic mutations in the CTNS gene resulting in the defective function of lysosomal cystine transporter (cystinosin) and the accumulation of cystine crystals in the kidneys and other organs affecting approximately 2000 individuals worldwide [1–3]. Here, CTNS is linked to nephropathic cystinosis.