ACDC (medicine)
Rare genetic disorder causing arterial and joint calcification
Arterial calcification due to deficiency of CD73 | |
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Synonyms | ACDC, CD73 deficiency |
Pronounce | N/A |
Specialty | N/A |
Symptoms | Arterial calcification, joint stiffness, chronic pain |
Complications | Peripheral artery disease, claudication, mobility impairments |
Onset | Typically early to mid-adulthood |
Duration | Lifelong |
Types | |
Causes | Mutation in the NT5E gene |
Risks | Family history, genetic predisposition |
Diagnosis | Genetic testing, radiographic imaging |
Differential diagnosis | Pseudoxanthoma elasticum, vascular calcification, arteriosclerosis |
Prevention | None |
Treatment | Symptomatic; investigational use of adenosine or phosphatase inhibitors |
Medication | Experimental therapies |
Prognosis | Progressive, but not typically life-threatening |
Frequency | Extremely rare |
Deaths | Rare, related to cardiovascular complications |
Arterial calcification due to deficiency of CD73 (ACDC) is a rare genetic disorder characterized by abnormal calcium deposits in the arteries and joints, especially in the lower limbs. The condition results from mutations in the NT5E gene, which encodes the CD73 enzyme that plays a crucial role in purine metabolism and the regulation of vascular calcification.
History
Although patients with symptoms consistent with ACDC were first documented as early as 1914, the disorder remained poorly understood for nearly a century. It was not until 2011 that researchers were able to pinpoint the exact genetic cause: mutations in the NT5E gene that lead to a deficiency of CD73 enzyme activity.
Genetics
ACDC is caused by autosomal recessive mutations in the NT5E gene located on chromosome 6. This gene encodes the CD73 enzyme, which is involved in converting adenosine monophosphate (AMP) to adenosine. In individuals with ACDC, the deficiency in CD73 leads to a reduction in adenosine production, which normally plays a role in inhibiting vascular and soft tissue calcification.
Pathophysiology
In the absence of CD73 function, the molecular pathways that prevent calcium phosphate deposition in the vasculature are impaired. This results in progressive calcification of medium- and small-sized arteries and periarticular tissues, particularly in the hands, feet, and lower extremities.
Clinical presentation
The main symptoms of ACDC include:
- Progressive calcification of arteries and joints
- Claudication (pain during walking)
- Chronic pain in the lower limbs
- Joint stiffness and reduced range of motion
- In some cases, vascular insufficiency or peripheral artery disease
Diagnosis
ACDC diagnosis is confirmed by:
- Clinical evaluation of symptoms
- Imaging studies such as X-rays, CT scans, or MRI that reveal calcified arteries and joints
- Genetic testing to identify mutations in the NT5E gene
Treatment
There is currently no cure for ACDC. Treatment is symptomatic and may include:
- Pain management using analgesics
- Surgical intervention to remove calcified deposits or improve blood flow
- Physical therapy to preserve mobility and reduce stiffness
Experimental therapies
Recent molecular studies have demonstrated that treatment with adenosine or phosphatase inhibitors in laboratory models may reverse or prevent calcification associated with CD73 deficiency. These findings are preliminary but offer hope for future therapeutic development.
Prognosis
ACDC is a progressive condition that can significantly impact quality of life, particularly due to pain and reduced mobility. However, it is generally not life-threatening unless significant vascular complications develop.
Epidemiology
ACDC is an extremely rare disorder, with fewer than 20 families described in medical literature as of the 2020s. The true prevalence is unknown due to underdiagnosis and lack of awareness.
See also
External links
Genetic disorders relating to deficiencies of transcription factor or coregulators | ||||||||||||||||||||||||||||||||||
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NIH genetic and rare disease info
ACDC (medicine) is a rare disease.
Rare and genetic diseases | ||||||
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Rare diseases - ACDC (medicine)
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Cardiovascular diseases | ||||||||||
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This cardiovascular disease related article is a stub.
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