Arterial calcification due to CD73 deficiency: Difference between revisions

Revision as of 19:19, 11 February 2025

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

Gallery

Apple Cheddar Soup with Kimchee and Tofu
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Carrots and Apples Soup
Apple Parsnip Soup with Apple Relish

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-'''Arterial Calcification due to CD73 Deficiency''' (ACDC) is a rare genetic disorder characterized by the calcification of the [[arteries]], which are the blood vessels that carry oxygenated blood from the heart to the rest of the body. This condition leads to decreased elasticity of the arteries, which can cause a range of cardiovascular issues. ACDC is caused by mutations in the [[NT5E]] gene, which encodes the enzyme CD73. This enzyme plays a crucial role in producing adenosine, a molecule involved in various physiological processes including the inhibition of arterial calcification.
+== Arterial Calcification Due to CD73 Deficiency ==
-==Symptoms and Diagnosis==
+'''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.
-The primary symptom of ACDC is the progressive calcification of the arteries, particularly those in the lower extremities, leading to decreased blood flow. This can result in claudication, which is pain caused by insufficient blood flow during exercise, and in severe cases, can lead to critical limb ischemia. Patients may also experience episodes of chest pain due to the involvement of coronary arteries. Diagnosis of ACDC is typically based on the clinical presentation and imaging studies that reveal extensive arterial calcification in the absence of traditional cardiovascular risk factors. Genetic testing confirming a mutation in the NT5E gene is definitive.
-==Pathophysiology==
+=== Pathophysiology ===
-The pathophysiology of ACDC revolves around the loss of function of the CD73 enzyme due to mutations in the NT5E gene. CD73 is responsible for the conversion of AMP (adenosine monophosphate) to adenosine, which has anti-inflammatory and anti-calcific properties. The deficiency of CD73 leads to a decrease in adenosine levels, promoting inflammation and calcification in the arterial walls.
+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.
-==Treatment==
+=== Clinical Features ===
-There is no cure for ACDC, and treatment is primarily supportive and aimed at managing symptoms and preventing complications. This may include medications to improve blood flow and reduce pain, as well as interventions to manage cardiovascular risk factors. In severe cases, surgical procedures such as angioplasty or bypass surgery may be necessary to restore blood flow to affected limbs.
+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.
-==Epidemiology==
+=== Diagnosis ===
-ACDC is an extremely rare condition, with only a few documented cases worldwide. It affects both males and females and has been reported in individuals of various ethnic backgrounds.
+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.
-==Research Directions==
+=== Treatment ===
-Research on ACDC is focused on understanding the molecular mechanisms underlying the disease and developing targeted therapies. Studies exploring the therapeutic potential of adenosine receptor agonists or gene therapy to restore CD73 function are of particular interest.
+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]]
+== Gallery ==
+<gallery>
+File:AppleCheddarSoupAppleKimcheeCheddarTofu_(8324582211).jpg|Apple Cheddar Soup with Kimchee and Tofu
+File:AppleCheddarParsleyTruffleSoup_(8301296137).jpg|Apple Cheddar Parsley Truffle Soup
+File:Carrots_&_apples_soup_(15239022563).jpg|Carrots and Apples Soup
+File:Apple_parsnip_soup_with_apple_relish.jpg|Apple Parsnip Soup with Apple Relish
+</gallery>
-[[Category:Rare diseases]]
 [[Category:Genetic disorders]]
-[[Category:Cardiovascular diseases]]
+[[Category:Vascular diseases]]
-{{rarediseases}}