Cystinosis is a rare degenerative disease that primarily affects children.
Cystinosis is a genetic metabolic disease that causes an abnormal accumulation of the amino acid, cystine, in almost all of the organs of the body. It occurs when mechanism to remove excess cystine is defective.
The accumulated cystine prevents cells from functioning correctly and damages organs.
Cystine crystals accumulate in the kidneys, eyes, liver, spleen, muscles, pancreas, thyroid, brain and white blood cells slowly destroying them. Without specific treatment, children with Cystinosis develop end stage kidney failure at approximately age nine.
As yet there is no known cure for Cystinosis, which means life expectancy at this time still remains uncertain.