Cystinosis

Abstract

Cystinosis is an autosomal recessive lysosomal storage disease (LSDs) resulting from a defect in the gene CTNS, which encodes the lysosomal cystine transporter protein cystinosin. This defect results in the accumulation of cystine in various organs. Severe renal dysfunction of the proximal tubule cells (PTCs), known as renal Fanconi syndrome, has been identified as one of the clinical manifestations of cystinosis. Furthermore, cystinosis affects one in every 100,000 to 200,000 live births with high morbidity and mortality. There are three clinical forms of cystinosis: infantile, juvenile and adult onset. Life-long cystine -depleting therapy with oral cysteamine is the main treatment of cystinosis. If treatment is initiated early, it can dramatically improve renal function, quality of life, and overall disease prognosis. This chapter summarizes the disease classification and clinical manifestations, epidemiology, pathophysiology, available treatments options, supportive care and future direction for the treatment of cystinosis.