A rare genetic disease where cystine builds up abnormally in cells throughout the body, especially in the kidneys and eyes, causing damage over time.
From cystine + Greek '-osis' meaning condition or disease; the suffix '-osis' indicates an abnormal or pathological state involving the accumulation or excess of cystine.
Cystinosis is a heartbreaking disease where the body can't properly clear cystine crystals from cells, and incredibly, a drug originally developed for organ transplant patients turns out to help by removing cystine from damaged cells—a beautiful example of drug repurposing.
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