Nephropathic cystinosis is an autosomal recessive inborn error of metabolism 
characterized by the lysosomal storage of the disulphide amino acid cystine. It 
produces a variety of clinical manifestations including failure to thrive, the 
renal Fanconi syndrome, eye findings, and end-stage renal disease. A variety of 
phenotypes are known; however, the molecular defect underlying any of the forms 
has not yet been identified. Therapy of cystinosis with cysteamine averts the 
otherwise inevitable renal failure, but systemic therapy does not improve the 
corneal keratopathy. A number of presentations in this review detail approaches 
to gene identification, systemic therapy with cysteamine, measurement of 
cystine, and pathophysiological effects at the cellular and clinical level.