Idiopathic infantile arterial calcification

Idiopathic Infantile Arterial Calcification (IIAC) also known as Arterial Calcification of Infancy, Generalised Infantile Arterial Calcification (GACI), Idiopathic Arterial Calcification of Infancy (IACI), Occlusive Infantile Arterial Calcification, Occlusive Infantile Arteriopathy[1] is an extremely rare,[2] usually fatal genetic disorder, caused by mutations in the ENPP1 gene in 75% of the subjects.[3] The condition affects infants during the first 6 months of life. This condition is inherited as an autosomal recessive pattern. It is characterized by generalised calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall.[4] Most infants die of vaso-occlusive disease, especially of the coronary arteries.[5]

Symptoms

Clinical presentation is variable. First symptoms usually occur at birth but can take place in the first 6 months of life or in utero.[2]

Cause

IIAC is inherited in an autosomal recessive pattern.

The disease results from an inactivating mutation in the ecto-nucleotide pyrophosphatase/phosphodiesterase-1 ENPP1 gene, leading to decreased inorganic pyrophosphate (PPi), a potent inhibitor of calcium deposition in the vessel wall. This mutation allows for unregulated calcium deposition within muscular arteries. The symptoms are caused by calcification of large and medium-sized arteries, including the aorta, coronary arteries, and renal arteries. Most of the patients die by 6 months of age because of heart failure. Recently, homozygous or compound heterozygous mutations for ENPP1 gene were reported as causative for the disorder. ENPP1 regulates extracellular inorganic pyrophosphate (PPi), a major inhibiter of extracellular matrix calcification.[12]

Diagnosis

Idiopathic arterial calcification of infancy should always be considered in infants and children presenting with hypertension, cardiac failure, or sudden death.[13] Plain radiography,[14] sonography[15] and MRI[16] can aid in the diagnosis. Postnatal gray-scale and color Doppler echocardiographic and sonographic examinations allowed noninvasive diagnosis, assessment of severity, and monitoring of progression.[17] Contrast-enhanced MR angiography with breath-hold and cardiac gating techniques can allow evaluation of the extent of the disease.[18]

Prevention and early detection

Treatment

Prognosis

See also

References

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  5. Rutsch, Frank; Boyer, Petra; Nitschke, Yvonne; Ruf, Nico; Lorenz-Depierieux, Bettina; Wittkampf, Tanja; Weissen-Plenz, Gabriele; Fischer, Rudolf-Josef; et al. (2008). "Hypophosphatemia, Hyperphosphaturia, and Bisphosphonate Treatment Are Associated with Survival Beyond Infancy in Generalized Arterial Calcification of Infancy". Circulation: Cardiovascular Genetics. 1 (2): 133–40. doi:10.1161/CIRCGENETICS.108.797704. PMC 2794045Freely accessible. PMID 20016754.
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