Cystinosis is a rare genetic disease affecting both children and adults.
It is estimated that 2,000 individuals worldwide and approximately 400 individuals in the United Stateshave cystinosis, but exact numbers are difficult to obtain since this disease often goes undiagnosed.
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.
With early detections and proper treatment, children and adults with cystinosis can minimize serious health complications, such as kidney failure and neurological damage.