Pharmacological treatment of nephropathic cystinosis with cysteamine.

Cystinosis, clinically recognised since 1903, is an autosomal recessive lysosomal storage disease caused by mutations in CTNS. This gene codes for a lysosomal cystine transporter, whose absence leads to intracellular cystine crystals, widespread cellular destruction, renal Fanconi syndrome in infancy, renal glomerular failure in later childhood and other systemic complications. Before the availability of kidney transplantation, patients affected with cystinosis uniformly died during childhood. After solid organ transplantations became successful in the 1960s, cystinosis patients survived, but eventually developed life-threatening consequences of the disease (e.g., swallowing disorders). 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. Oral cysteamine therapy is given at doses of 60 - 90 mg/kg/day q.i.d. every 6 h, and generally achieves approximately 90% depletion of cellular cystine, as measured in circulating leucocytes. Cysteamine (and kidney transplantation) have commuted the death sentence of cystinosis into a nearly normal life with a chronic disease. Because treatment with oral cysteamine can prevent, or significantly delay, the complications of cystinosis, early and accurate diagnosis, as well as proper treatment, is critical.