NT5E Genetic Mutation Is a Rare But Important Cause of Intermittent Claudication and Chronic Limb-Threatening Ischemia

Nobuyoshi Azuma; Tetsuro Uchida; Shinsuke Kikuchi; Mitsuaki Sadahiro; Tsunehiro Shintani; Kumiko Yanagi; Ryuji Higashita; Atsushi Yamashita; Yoshio Makita; Tadashi Kaname

doi:10.1253/circj.CJ-20-0153

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NT5E Genetic Mutation Is a Rare But Important Cause of Intermittent Claudication and Chronic Limb-Threatening Ischemia

Nobuyoshi Azuma, Tetsuro Uchida, Shinsuke Kikuchi, Mitsuaki Sadahiro, Tsunehiro Shintani, Kumiko Yanagi, Ryuji Higashita, Atsushi Yamashita, Yoshio Makita, Tadashi Kaname

著者情報

Nobuyoshi Azuma
Department of Vascular Surgery, Asahikawa Medical University [日本]
Tetsuro Uchida
Division of Cardiovascular Surgery, Department of Surgery II, Yamagata University [日本]
Shinsuke Kikuchi
Department of Vascular Surgery, Asahikawa Medical University [日本]
Mitsuaki Sadahiro
Division of Cardiovascular Surgery, Department of Surgery II, Yamagata University [日本]
Tsunehiro Shintani
Department of Vascular Surgery, Shizuoka Red Cross Hospital [日本]
Kumiko Yanagi
Department of Genome Medicine, National Center for Child Health and Development [日本]
Ryuji Higashita
Department of Cardiovascular Surgery, Yokohama General Hospital [日本]
Atsushi Yamashita
Division of Cardiovascular Surgery, Department of Surgery II, Yamagata University [日本]
Yoshio Makita
Education Center, Asahikawa Medical University [日本]
Tadashi Kaname
Department of Genome Medicine, National Center for Child Health and Development [日本]

キーワード: Calcification of joints and arteries, Chronic limb-threatening ischemia, Intermittent claudication, NT5E gene, Peripheral artery calcification

ジャーナルフリー HTML 早期公開

論文ID: CJ-20-0153

DOI https://doi.org/10.1253/circj.CJ-20-0153

この記事には本公開記事があります。

The final version of this article is now available: Vol. 84 (2020), No. 7 pp. 1183-1188

詳細

抄録

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.

責任著者(Corresponding author)

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