General Info: Cystinosis

Cystinosis is a rare genetic disease affecting both children and adults. it is usually diagnosed in early infancy. It is estimated that 2,000 individuals worldwide have cystinosis, but exact numbers are difficult to obtain since this disease often goes undiagnosed. With early detections and proper treatment, children and adults with cystinosis can avoid serious health complications, such as kidney failure and neurological damage.

Cystinosis is a rare autosomal recessive disease affecting approximately 400 individuals in the United States. The disease is characterized by elevated levels of intracellular cystine due to a defect in the lysosomal cystine transporter. Accumulation of cystine results in multiple organ damage with renal damage being the most pronounced in the first decade of life. Individuals with cystinosis experience both tubular dysfunction (renal Fanconi Syndrome) and glomerular deterioration. The renal Fanconi Syndrome usually occurs within the first year of life. Glomerular deterioration progresses throughout the first decade of life resulting in end-stage renal failure.