Cystinosis

What is cystinosis?

Cystinosis is caused by the body not having enough of a specific protein called cystinosin, which helps the cells of the body clear out a substance called cystine. When cystine builds up in the body, it can cause damage to organs such as the kidneys, eyes, thyroid, pancreas and testicles. There are three types of cystinosis, which have varying levels of severity and first show signs at different ages. The most severe type, known as nephropathic cystinosis, shows signs around age 6 months, while the least severe form may not show up until adulthood.

How common is cystinosis?

Cystinosis affects about 1 in every 150,000 babies born each year in the United States.

What can be done for cystinosis?

Identifying this condition early is essential, and can lead to reduced symptoms and an improved quality of life. Certain symptoms of cystinosis can be treated (or slowed down) by taking a daily medication that helps the body break down cystine. People with cystinosis are given this treatment throughout life.

How is cystinosis inherited?

Cystinosis is caused by changes in the CTNS gene. It is a recessive inherited condition, which means that a person must inherit two altered copies of the CTNS gene, one from each parent, in order to have the disease. People who have only one copy of the altered CTNS gene are called carriers, and are not expected to have symptoms of the condition. If a baby is identified as a carrier for cystinosis through Eli screening, genetic counseling and additional testing in the parents is recommended.

References

https://ghr.nlm.nih.gov/condition/cystinosis#
https://www.ncbi.nlm.nih.gov/books/NBK1400/
https://www.cystinosisresearch.org/about-cystinosis/treatment/

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