Cystinosis

Definition:

Cystinosis is an autosomal recessive lysosomal storage disorder caused by deficiency of lysosomal cystine transporter, which leads to intracellular cystine crystals, widespread cellular destruction, renal Fanconi syndrome in infancy, renal glomerular failure in later childhood, and other systemic complications. Since the introduction of cysteamine into the pharmacological management of cystinosis, well-treated adolescent and young adult patients have experienced normal growth and maintenance of renal glomerular function.

References:

[1]. E F Neufeld, et al. Lysosomal storage diseases. Annu Rev Biochem. 1991;60:257-80. [Content Brief]

[2]. J G Thoene, et al. Cystinosis. Intracellular cystine depletion by aminothiols in vitro and in vivo. J Clin Invest. 1976 Jul;58(1):180-9. [Content Brief]

[3]. Robert Kleta, et al. Pharmacological treatment of nephropathic cystinosis with cysteamine. Expert Opin Pharmacother. 2004 Nov;5(11):2255-62. [Content Brief]

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