Cystinosis: pathogenesis, clinical features and treatment

Cystinosis is a rare autosomal recessive disease characterized by lysosomal cystine accumulation throughout the body. Nephropathic cystinosis usually manifests in infancy with Fanconi syndrome and results in end-stage renal disease (ESRD) in the later childhood. Adolescents and young adults with cystinosis present with various extrarenal manifestations involving pancreas, thyroid, gonads, liver, spleen, etc. In case of renal failure, renal transplantation is the treatment of choice. Treatment with cysteamine that depletes lysosomal cystine in cells and tissues and delays the progression to ESRD should be started as soon as possible, and needs to be continued life-long. The authors present two patients with cystinosis and review its clinical signs and symptoms and treatment.

Key words

Cystinosis, ESRD, cysteamine.