BACKGROUND ON CYSTINOSIS
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.