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- Arterial calcification due to deficiency of CD73 (ACDC) is a rare genetic disorder that causes calcium buildup in the arteries and joints of the hands and feet, and other areas below the waist. Although patients exhibiting these symptoms have been identified as early as 1914, this disorder had not been studied extensively until recently. The identification of the specific ACDC gene and mutations occurred in 2011. ACDC is caused by a mutation in the NT5E gene, which prevents calcium-removing agents from functioning,. Patients with this mutation experience chronic pain, difficulty moving, and increased risk of cardiovascular problems. In experiments at the molecular level, treatment with adenosine or a phosphatase inhibitor reversed and prevented calcification, suggesting they could be used as possible treatment methods. There is currently no cure for ACDC, and patients have limited treatment options which focus primarily on removal of blood calcium and improving mobility. (en)
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- A knee x-ray of a person with ACDC (en)
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- Arterial calcification due to deficiency of CD73 (ACDC) is a rare genetic disorder that causes calcium buildup in the arteries and joints of the hands and feet, and other areas below the waist. Although patients exhibiting these symptoms have been identified as early as 1914, this disorder had not been studied extensively until recently. The identification of the specific ACDC gene and mutations occurred in 2011. ACDC is caused by a mutation in the NT5E gene, which prevents calcium-removing agents from functioning,. Patients with this mutation experience chronic pain, difficulty moving, and increased risk of cardiovascular problems. In experiments at the molecular level, treatment with adenosine or a phosphatase inhibitor reversed and prevented calcification, suggesting they could be used (en)
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