Article

Cystinosis and your kidneys

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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.
Medically reviewed by
AKF's Medical Advisory Committee
Last updated
December 6, 2021

How does cystinosis affect your kidneys?

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.

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FOR PARENTS

Access cystinosis resources for parents

The diagnosis of kidney disease due to cystinosis can be overwhelming and even unexpected. As a parent, it is normal to feel a wide range of emotions as you adjust to this news and what it will mean for your child and your family. Learn how to best support your child with cystinosis.

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.

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FOR TEENS

Cystinosis information for teens

Cystinosis is a rare genetic condition. A genetic condition means that it is passed down through families. Learn more about how cystinosis can affect your body and how to prepare for and manage a kidney transplant.

How parents can help their child with cystinosis