Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum
TC Markello, LK Pak, CS Hilaire, H Dorward… - Molecular genetics and …, 2011 - Elsevier
Arterial Calcification due to Deficiency of CD73 (ACDC) results from mutations in the NT5E
gene encoding the 5′ exonucleotidase, CD73. We now describe the third familial case of
ACDC, including radiological and histopathological details of the arterial calcifications. The
medial lesions involve the entire circumference of the elastic lamina, in contrast to the intimal
plaque-like disease of atherosclerosis. The demonstration of broken and fragmented elastic
fibers leading to generalized vascular calcification suggests an analogy to pseudoxanthoma …
gene encoding the 5′ exonucleotidase, CD73. We now describe the third familial case of
ACDC, including radiological and histopathological details of the arterial calcifications. The
medial lesions involve the entire circumference of the elastic lamina, in contrast to the intimal
plaque-like disease of atherosclerosis. The demonstration of broken and fragmented elastic
fibers leading to generalized vascular calcification suggests an analogy to pseudoxanthoma …
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