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雑誌文献

臨床検査58巻8号

2014年08月発行

文献概要

今月の特集2 血栓症時代の検査

血栓性素因の検査医学的アプローチ

著者: 阪田敏幸12

所属機関: 1国立循環器病センター研究所 分子病態部 2アイ・エル・ジャパン

ページ範囲:P.949 - P.954

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●日本人における静脈血栓塞栓症(VTE)の主な血栓性素因は,アンチトロンビン(AT),プロテインC(PC),およびプロテインS(PS)欠損症である.

●スクリーニングに用いる測定法はそれぞれの因子によって異なるため,対象ごとに適切な測定法を選択する必要がある.

●PCあるいはPS欠損症のスクリーニングには,PCの抗凝固活性とPS活性測定がそれぞれ重要である.

●フェノタイプおよびサブタイプの同定は,AT欠損症のようにフェノタイプおよびサブタイプ間でVTEリスクが異なる場合を除いて,あえて実施する必要はない.

参考文献

1)Sakata T, Okamoto A, Mannami T, et al:Protein C and antithrombin deficiency are important risk factors for deep vein thrombosis in Japanese. J Thromb Haemost 2:528-530,2004
2)Sakata T, Okamoto A, Mannami T, et al:Prevalence of protein S deficiency in the Japanese general population: the Suita Study. J Thromb Haemost 2:1012-1013,2004
3)Kimura R, Honda S, Kawasaki T, et al:Protein S-K196E mutation as a genetic risk factor for deep vein thrombosis in Japanese patients. Blood 107:1737-1738,2006
4)Suehisa E, Nomura T, Kawasaki T, et al:Frequency of natural coagulation inhibitor (antithrombin Ⅲ, protein C and protein S) deficiencies in Japanese patients with spontaneous deep vein thrombosis. Blood Coagul Fibrinolysis 12:95-99,2001
5)Mitsuguro M, Sakata T, Okamoto A, et al:Usefulness of antithrombin deficiency phenotypes for risk assessment of venous thromboembolism: typeⅠ deficiency as a strong risk factor for venous thromboembolism. Int J Hematol 92:468-473,2010
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7)Corral J, Hernandez-Espinosa D, Soria JM, et al:Antithrombin CambridgeⅡ (A384S): an underestimated genetic risk factor for venous thrombosis. Blood 109:4258-4263,2007
8)Kottke-Marchant K, Duncan A:Antithrombin deficiency: issues in laboratory diagnosis. Arch Pathol Lab Med 126:1326-1336,2002
9)Imperial College London:Antithrombin Mutation Database(http://www1.imperial.ac.uk/departmentofmedicine/divisions/experimentalmedicine/haematology/coag/antithrombin/)
10)Miyata T, Sato Y, Ishikawa J, et al:Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis. Thromb Res 124:14-18,2009
11)Lane DA, Mannucci PM, Bauer KA, et al:Inherited thrombophilia: Part 1. Thromb Haemost 76:651-662,1996
12)Kario K, Sakata T, Higashikawa M, et al:Silent cerebral infarcts in basal ganglia are advanced in congenital protein C-deficient heterozygotes with hypertension. Am J Hypertens 14:818-822,2001
13)Sakata T, Kario K, Katayama Y, et al:Studies on congenital protein C deficiency in Japanese: prevalence, genetic analysis, and relevance to the onset of arterial occlusive diseases. Semin Thromb Hemost 26:11-16,2000
14)Sakata T, Kario K, Katayama Y, et al:Analysis of 45 episodes of arterial occlusive disease in Japanese patients with congenital protein C deficiency. Thromb Res 94:69-78,1999
15)Mahmoodi BK, Brouwer JL, Veeger NJ, et al:Hereditary deficiency of protein C or protein S confers increased risk of arterial thromboembolic events at a young age: results from a large family cohort study. Circulation 118:1659-1667,2008
16)Toulon P, Smirnov M, Triscott M, et al:A new chromogenic assay (HemosIL ThromboPath) is sensitive to major prothrombotic risk factors affecting the protein C pathway. Results of a multicenter study. Thromb Res 124:137-143,2009
17)Gandrille S, Borgel D, Sala N, et al:Protein S deficiency: a database of mutations--summary of the first update. Thromb Haemost 84:918,2000
18)Castoldi E, Maurissen LF, Tormene D, et al:Similar hypercoagulable state and thrombosis risk in typeⅠ and typeⅢ protein S-deficient individuals from families with mixed typeⅠ/Ⅲ protein S deficiency. Haematologica 95:1563-1571,2010
19)Marlar RA, Gausman JN:Protein S abnormalities: a diagnostic nightmare. Am J Hematol 86:418-421,2011
20)Kimura R, Sakata T, Kokubo Y, et al:Plasma protein S activity correlates with protein S genotype but is not sensitive to identify K196E mutant carriers. J Thromb Haemost 4:2010-2013,2006
21)Tsuda T, Jin X, Tsuda H, et al:New quantitative total protein S-assay system for diagnosing protein S typeⅡ deficiency: clinical application of the screening system for protein S typeⅡ deficiency. Blood Coagul Fibrinolysis 23:56-63,2012
22)Miyawaki Y, Suzuki A, Fujita J, et al:Thrombosis from a prothrombin mutation conveying antithrombin resistance. N Engl J Med 366:2390-2396,2012
23)Nogami K, Shinozawa K, Ogiwara K, et al:Novel FV mutation (W1920R, FVNara) associated with serious deep vein thrombosis and more potent APC resistance relative to FVLeiden. Blood 123:2420-2428,2014

掲載誌情報

出版社:株式会社医学書院

電子版ISSN:1882-1367

印刷版ISSN:0485-1420

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