Arterial calcification due to CD73 deficiency

Arterial Calcification Due to CD73 Deficiency

Arterial calcification due to CD73 deficiency (ACDC) is a rare genetic disorder characterized by the abnormal deposition of calcium in the arteries, particularly affecting the lower extremities. This condition is caused by mutations in the NT5E gene, which encodes the enzyme CD73. CD73 is crucial for the production of adenosine, a molecule that plays a significant role in inhibiting vascular calcification.

Pathophysiology

The NT5E gene provides instructions for making the enzyme CD73, which is involved in the conversion of AMP (adenosine monophosphate) to adenosine. Adenosine is a signaling molecule that has various functions, including vasodilation and inhibition of inflammation. In individuals with ACDC, mutations in the NT5E gene lead to a deficiency of CD73, resulting in reduced levels of adenosine. This deficiency disrupts normal vascular function and promotes the deposition of calcium in the arterial walls.

Clinical Features

Patients with ACDC typically present with symptoms related to arterial calcification, such as intermittent claudication, pain in the lower limbs, and reduced mobility. The calcification primarily affects the arteries of the lower extremities, but can also involve the hands and feet. The condition is progressive and can lead to significant morbidity due to impaired blood flow.

Diagnosis

Diagnosis of ACDC is based on clinical evaluation, imaging studies, and genetic testing. Imaging techniques such as X-rays, CT scans, or MRI can reveal calcification in the arteries. Genetic testing can confirm the diagnosis by identifying mutations in the NT5E gene.

Treatment

Currently, there is no cure for ACDC, and treatment focuses on managing symptoms and preventing complications. Therapeutic approaches may include pain management, physical therapy, and surgical interventions to improve blood flow. Research is ongoing to explore potential treatments that target the underlying genetic and biochemical abnormalities.

Related Pages

• Vascular calcification
• Genetic disorders
• Adenosine
• Enzyme deficiency

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