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.

Prepare for your next virtual doctor visit

Telehealth lets you see your doctor from home – or wherever you are. Download this guide for tips on how to prepare for your next virtual visit.


If you do not have a computer or internet access, the Cystinosis Research Network (CRN) and PCs for People may be able to help. Learn more here.

How parents can help their child with cystinosis

Learn about how parents can help prepare, manage, and support their child with kidney transplant and cystinosis.