Nephropathic Cystinosis

NephropathicCystinosis is an inherited (autosomal recessive) lysosomal storage disorder caused by defective transport of the amino acid cystine out of lysosomes. The stored cystine is poorly soluble and crystallizes within the lysosomes of many cell types, leading to widespread tissue and organ damage. Three types of cystinosis have been described based on the age at diagnosis and magnitude of cellular cystine deposition:

Infantile onset, adolescent onset, and adult onset. Patients with the infantile nephropathic form of cystinosis (the most common and the most severe) develop symptoms early in life and, if left untreated, develop end-stage kidney failure by late childhood.