ACDC

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ACDC (Arterial Calcification due to Deficiency of CD73) is a rare genetic disorder that affects the body's ability to break down calcium, leading to accumulation of calcium in the arteries and joints. It is characterized by calcification of arteries and joint-related symptoms such as pain and stiffness.

Symptoms

The primary symptoms of ACDC include:

  • Pain and stiffness in the joints, particularly in the hands and feet
  • Arterial calcification, which can lead to reduced blood flow and potential heart problems
  • Difficulty walking due to joint issues and arterial calcification in the legs

Causes

ACDC is caused by mutations in the NT5E gene. This gene provides instructions for making an enzyme called CD73, which plays a crucial role in breaking down a molecule called AMP (adenosine monophosphate) into adenosine. Adenosine helps to prevent the accumulation of calcium in the arteries and joints. Mutations in the NT5E gene reduce the activity of CD73, leading to a buildup of AMP and, consequently, calcium.

Diagnosis

Diagnosis of ACDC is typically made through a combination of physical examination, medical history, and genetic testing. The genetic testing can confirm the presence of mutations in the NT5E gene.

Treatment

There is currently no cure for ACDC. Treatment is focused on managing symptoms and may include pain management, physical therapy, and in some cases, surgery to remove calcium deposits.

See Also

References

External links

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