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About Cystinosis Awareness Day
Fundraising Event
Ends: May 07, 2024
DESCRIPTION:
Cystinosis Awareness Day began in 2018. This annual event seeks to raise awareness about the disease and raise funds to find a cure.
From the Cystinosis Research Network:
“Cystinosis is a rare genetic, metabolic, lysosomal storage disease caused by mutations in the CTNS gene on chromosome 17p13 which results in an abnormal accumulation of the amino acid cystine in various organs and tissues of the body such as the kidneys, eyes, muscles, pancreas and brain. The cystine accumulation causes widespread tissue and organ damage. Cystine accumulation can lead to kidney failure, muscle wasting, swallowing difficulty, diabetes, hypothyroidism, cerebral atrophy, photophobia, blindness, corneal ulceration, ventilatory impairment and more. Without treatment, children with cystinosis will usually develop end stage kidney failure or die prematurely. If cystinosis patients receive a kidney transplant, their new kidney will not be affected by the disease. However, without specific treatment, cystine accumulation can cause complications in other organs of the body.”
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