Protein C deficiency as the major cause of thrombophilias in childhood

Shouichi Ohga, Akira Ishiguro, Yukihiro Takahashi, Midori Shima, Masashi Taki, Masatoki Kaneko, Kotaro Fukushima, Dongchon Kang, Toshiro Hara

研究成果: ジャーナルへの寄稿評論記事

22 引用 (Scopus)

抄録

Genetic predisposition of thromboembolism depends on the racial background. Factor V Leiden (G1691A) and factor II mutation (G20210A) are the leading causes of inherited thrombophilias in Caucasians, but are not found in Asian ancestries. Protein S (PS), protein C (PC) and antithrombin (AT) activity are reportedly low in 65% of adult Japanese patients with deep vein thrombosis. Approximately half of the patients with each deficiency carry the heterozygous mutation of PS (PROS1; 20%), PC (PROC; 10%), and AT genes (SERPINC1: 5%). Recently, several studies have revealed an outline of inherited thrombophilias in Japanese children. Congenital thrombophilias in 48 patients less than age 20 years consisted of 45% PC deficiency, 15% PS deficiency and 10% AT deficiency, along with other causes. All PS- and AT-deficient patients had a heterozygous mutation of the respective gene. On the other hand, PC-deficient patients were considered to carry the homozygous or compound heterozygous mutation in 50%, the heterozygous mutation in 25%, and unknown causes in the remaining 25% of patients. Half of unrelated patients with homozygous or compound heterozygous PROC mutations carried PC-nagoya (1362delG), while their parents with its heterozygous mutation were asymptomatic. Most of the PC-deficient patients developed intracranial lesion and/or purpura fulminans within 2 weeks after birth. Non-inherited PC deficiency also conveyed thromboembolic events in early infancy. The molecular epidemiology of thrombosis in Asian children would provide a clue to establish the early intervention and optimal anticoagulant therapy in pediatric PC deficiency.

元の言語英語
ページ(範囲)267-271
ページ数5
ジャーナルPediatrics International
55
発行部数3
DOI
出版物ステータス出版済み - 6 2013

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Protein C Deficiency
Antithrombins
Mutation
Protein C
Protein S
Purpura Fulminans
Protein S Deficiency
Molecular Epidemiology
Thromboembolism
Prothrombin
Genetic Predisposition to Disease
Venous Thrombosis
Anticoagulants
Genes
Thrombosis
Parents
Parturition
Pediatrics

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

これを引用

Ohga, S., Ishiguro, A., Takahashi, Y., Shima, M., Taki, M., Kaneko, M., ... Hara, T. (2013). Protein C deficiency as the major cause of thrombophilias in childhood. Pediatrics International, 55(3), 267-271. https://doi.org/10.1111/ped.12102

Protein C deficiency as the major cause of thrombophilias in childhood. / Ohga, Shouichi; Ishiguro, Akira; Takahashi, Yukihiro; Shima, Midori; Taki, Masashi; Kaneko, Masatoki; Fukushima, Kotaro; Kang, Dongchon; Hara, Toshiro.

:: Pediatrics International, 巻 55, 番号 3, 06.2013, p. 267-271.

研究成果: ジャーナルへの寄稿評論記事

Ohga, S, Ishiguro, A, Takahashi, Y, Shima, M, Taki, M, Kaneko, M, Fukushima, K, Kang, D & Hara, T 2013, 'Protein C deficiency as the major cause of thrombophilias in childhood', Pediatrics International, 巻. 55, 番号 3, pp. 267-271. https://doi.org/10.1111/ped.12102
Ohga S, Ishiguro A, Takahashi Y, Shima M, Taki M, Kaneko M その他. Protein C deficiency as the major cause of thrombophilias in childhood. Pediatrics International. 2013 6;55(3):267-271. https://doi.org/10.1111/ped.12102
Ohga, Shouichi ; Ishiguro, Akira ; Takahashi, Yukihiro ; Shima, Midori ; Taki, Masashi ; Kaneko, Masatoki ; Fukushima, Kotaro ; Kang, Dongchon ; Hara, Toshiro. / Protein C deficiency as the major cause of thrombophilias in childhood. :: Pediatrics International. 2013 ; 巻 55, 番号 3. pp. 267-271.
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abstract = "Genetic predisposition of thromboembolism depends on the racial background. Factor V Leiden (G1691A) and factor II mutation (G20210A) are the leading causes of inherited thrombophilias in Caucasians, but are not found in Asian ancestries. Protein S (PS), protein C (PC) and antithrombin (AT) activity are reportedly low in 65{\%} of adult Japanese patients with deep vein thrombosis. Approximately half of the patients with each deficiency carry the heterozygous mutation of PS (PROS1; 20{\%}), PC (PROC; 10{\%}), and AT genes (SERPINC1: 5{\%}). Recently, several studies have revealed an outline of inherited thrombophilias in Japanese children. Congenital thrombophilias in 48 patients less than age 20 years consisted of 45{\%} PC deficiency, 15{\%} PS deficiency and 10{\%} AT deficiency, along with other causes. All PS- and AT-deficient patients had a heterozygous mutation of the respective gene. On the other hand, PC-deficient patients were considered to carry the homozygous or compound heterozygous mutation in 50{\%}, the heterozygous mutation in 25{\%}, and unknown causes in the remaining 25{\%} of patients. Half of unrelated patients with homozygous or compound heterozygous PROC mutations carried PC-nagoya (1362delG), while their parents with its heterozygous mutation were asymptomatic. Most of the PC-deficient patients developed intracranial lesion and/or purpura fulminans within 2 weeks after birth. Non-inherited PC deficiency also conveyed thromboembolic events in early infancy. The molecular epidemiology of thrombosis in Asian children would provide a clue to establish the early intervention and optimal anticoagulant therapy in pediatric PC deficiency.",
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AU - Ohga, Shouichi

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AU - Taki, Masashi

AU - Kaneko, Masatoki

AU - Fukushima, Kotaro

AU - Kang, Dongchon

AU - Hara, Toshiro

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N2 - Genetic predisposition of thromboembolism depends on the racial background. Factor V Leiden (G1691A) and factor II mutation (G20210A) are the leading causes of inherited thrombophilias in Caucasians, but are not found in Asian ancestries. Protein S (PS), protein C (PC) and antithrombin (AT) activity are reportedly low in 65% of adult Japanese patients with deep vein thrombosis. Approximately half of the patients with each deficiency carry the heterozygous mutation of PS (PROS1; 20%), PC (PROC; 10%), and AT genes (SERPINC1: 5%). Recently, several studies have revealed an outline of inherited thrombophilias in Japanese children. Congenital thrombophilias in 48 patients less than age 20 years consisted of 45% PC deficiency, 15% PS deficiency and 10% AT deficiency, along with other causes. All PS- and AT-deficient patients had a heterozygous mutation of the respective gene. On the other hand, PC-deficient patients were considered to carry the homozygous or compound heterozygous mutation in 50%, the heterozygous mutation in 25%, and unknown causes in the remaining 25% of patients. Half of unrelated patients with homozygous or compound heterozygous PROC mutations carried PC-nagoya (1362delG), while their parents with its heterozygous mutation were asymptomatic. Most of the PC-deficient patients developed intracranial lesion and/or purpura fulminans within 2 weeks after birth. Non-inherited PC deficiency also conveyed thromboembolic events in early infancy. The molecular epidemiology of thrombosis in Asian children would provide a clue to establish the early intervention and optimal anticoagulant therapy in pediatric PC deficiency.

AB - Genetic predisposition of thromboembolism depends on the racial background. Factor V Leiden (G1691A) and factor II mutation (G20210A) are the leading causes of inherited thrombophilias in Caucasians, but are not found in Asian ancestries. Protein S (PS), protein C (PC) and antithrombin (AT) activity are reportedly low in 65% of adult Japanese patients with deep vein thrombosis. Approximately half of the patients with each deficiency carry the heterozygous mutation of PS (PROS1; 20%), PC (PROC; 10%), and AT genes (SERPINC1: 5%). Recently, several studies have revealed an outline of inherited thrombophilias in Japanese children. Congenital thrombophilias in 48 patients less than age 20 years consisted of 45% PC deficiency, 15% PS deficiency and 10% AT deficiency, along with other causes. All PS- and AT-deficient patients had a heterozygous mutation of the respective gene. On the other hand, PC-deficient patients were considered to carry the homozygous or compound heterozygous mutation in 50%, the heterozygous mutation in 25%, and unknown causes in the remaining 25% of patients. Half of unrelated patients with homozygous or compound heterozygous PROC mutations carried PC-nagoya (1362delG), while their parents with its heterozygous mutation were asymptomatic. Most of the PC-deficient patients developed intracranial lesion and/or purpura fulminans within 2 weeks after birth. Non-inherited PC deficiency also conveyed thromboembolic events in early infancy. The molecular epidemiology of thrombosis in Asian children would provide a clue to establish the early intervention and optimal anticoagulant therapy in pediatric PC deficiency.

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