Nephropathic cystinosis is a rare lysosomal storage disorder caused by mutations 
in the CTNS gene ncoding the lysosomal cystine transporter cystinosin. 
Cystinosin deficiency leads to accumulation of cystine in the lysosomes of cells 
throughout the body and deregulation of endocytosis, trafficking of 
intracellular vesicles and related cell signalling processes. One of the early 
features of the disease is renal Fanconi syndrome characterized by polyuria, 
proteinuria and urinary loss of various solutes. Later in life, extrarenal 
complications become apparent, and decline of kidney function leads to the 
development of end-stage renal disease. Modern therapy of the disease is based 
on treatment with cystine-lowering drug cysteamine, which helps to postpone the 
disease progression and development of extra-renal pathologies, but offers no 
cure for the Fanconi syndrome. Besides the improvement of cystine-lowering 
therapy based on new formulations of cysteamine, further development of therapy 
is necessary. Some steps forward were done in the recent years, including 
studies of cell signalling abnormalities in cystinosis and development of stem 
cell and gene therapy approaches.