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Cystinosis is a rare, genetic disorder that causes an amino acid, cystine, to accumulate in various organs of the body including the kidneys, eyes, liver, muscles, pancreas, brain, and white blood cells. Complications include muscle wasting, difficulty swallowing, diabetes, and hypothyroidism. The age of onset, symptoms, and severity of cystinosis can vary greatly from one person to another, but it is typically diagnosed prior to age 2. Early detection and prompt treatment are critical and without specific treatment, children with cystinosis develop end stage kidney failure at approximately age nine.
Information provided in part by our partner NORD.

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