Children's Hospital Colorado

Cystinosis

What is cystinosis?

Cystinosis is a genetic disease in which an abnormal amount of protein called cystine builds up in several organs, causing significant damage over time. Cystinosis is a multisystem condition, which means it can affect different organs throughout the body, including the kidneys, eyes, thyroid, muscles, bones, liver, pancreas, gonads and brain.

What causes pediatric cystinosis?

The cystine buildup is due to a genetic abnormality, specifically, a mutation in the CTNS gene on the 17th chromosome. This buildup occurs because affected individuals cannot break down and get rid of cystine due to an abnormality in the way their body metabolizes or processes it.

Who gets cystinosis?

Cystinosis is a rare disease that affects about one in every 150,000 live births in the United States. Cystinosis can affect individuals of all ethnicities and genders and often runs in families. Cystinosis is inherited in an autosomal recessive pattern, which means that both of the parents must carry the gene that causes the disease. However, the parents may not be affected by cystinosis themselves.

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