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NT5E Genetic Mutation Is a Rare But Important Cause of Intermittent Claudication and Chronic Limb-Threatening
Nobuyoshi Azuma1, Tetsuro Uchida2, Shinsuke Kikuchi1
1Department of Vascular Surgery, Asahikawa Medical University.
Background:
NT5Egenetic mutations are known to result in calcification of joints and arteries (CALJA), and worldwide, 14 patients from 7 families have been reported.
Methods And Results:
A total of 5 patients from 2 independent families with CALJA were found in Japan. Of them, 3 complained of intermittent claudication (IC), and 1 suffered from bilateral chronic limb-threatening ischemia (CLTI). Whole-exome sequencing analysis revealed an identical mutation pattern (c.G3C on the exon 1 start codon) that was unique compared withNT5Emutations reported in other countries.
Conclusions:
Vascular specialists need to recognize CALJA as a rare cause of ischemic IC and CLTI.
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