Cystinosis is a rare, multisystem genetic disease that accounts for nearly 5% of all childhood cases of kidney failure. Cystinosis occurs in only about 1 in 100,000-200,000 children, so it is not widely known nor understood.
Cystinosis happens when cystine, a component of protein, builds up in your body’s cells. Having too much cystine can damage your organs including your kidneys, eyes, pancreas, liver, and brain. Cystinosis can lead to permanent kidney damage and kidney failure. The disease is caused by mutations in the CTNS gene which can be passed down from parents to their children. There is no cure for cystinosis, but there are medicines to treat the symptoms, and to help lower the level of cystine your body makes.