Cystinosis Awareness Day is observed worldwide every May 7 to educate the public about cystinosis, a rare genetic disorder that affects the kidneys, eyes, and other organs. The day aims to advocate for better access to diagnosis and treatment for those affected by this condition, which results from the accumulation of the amino acid cystine due to mutations in the CTNS gene. Cystinosis is characterized by three types: infantile nephropathic, late-onset nephropathic, and ocular cystinosis, each presenting varying symptoms and severity. Major symptoms include frequent urination, constant thirst, and sensitivity to light, with untreated cases potentially leading to kidney failure. On this day, individuals are encouraged to learn more about cystinosis, share information, and support organizations that assist patients or fund research. The observance also promotes the use of the hashtag #CystinosisAwarenessDay on social media to spread awareness.
May 7: Cystinosis Awareness Day
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