Phân tích di truyền ở bệnh nhân bị huyết khối tĩnh mạch sâu trong thời kỳ mang thai và sau sinh

Marik PE, Plante LA. Venous thromboembolic disease and pregnancy. N Engl J Med. 2008;359:2025–33. Lindqvist P, Dahlback B, Marsal K. Thrombotic risk during pregnancy: a population study. Obstet Gynecol. 1999;94:595–9. Heit JA, Kobbervig CE, James AH, Petterson TM, Bailey KR, Melton LJ III. Trends in the incidence of venous thromboembolism during pregnancy or postpartum: a 30-year population-based study. Ann Intern Med. 2005;143:697–706. Pomp ER, Lenselink AM, Rosendaal FR, Doggen CJ. Pregnancy, the postpartum period and prothrombotic defects: risk of venous thrombosis in the MEGA study. J Thromb Haemost. 2008;6:632–7. McColl MD, Ramsay JE, Tait RC, Walker ID, McCall F, Conkie JA, et al. Risk factors for pregnancy associated venous thromboembolism. Thromb Haemost. 1997;78:1183–8. Kobayashi T, Nakabayashi M, Ishikawa M, Adachi T, Kobashi G, Maeda M, et al. Pulmonary thromboembolism in obstetrics and gynecology increased by 6.5-fold over the past decade in Japan. Circ J. 2008;72:753–6. Kupferminc MJ, Eldor A, Steinman N, Many A, Bar-Am A, Jaffa A, et al. Increased frequency of genetic thrombophilia in women with complications of pregnancy. N Engl J Med. 1999;340:9–13. Gerhardt A, Scharf RE, Beckmann MW, Struve S, Bender HG, Pillny M, et al. Prothrombin and factor V mutations in women with a history of thrombosis during pregnancy and the puerperium. N Engl J Med. 2000;342:374–80. Duhl AJ, Paidas MJ, Ural SH, Branch W, Casele H, Cox-Gill J et al. Antithrombotic therapy and pregnancy: consensus report and recommendations for prevention and treatment of venous thromboembolism and adverse pregnancy outcomes. Am J Obstet Gynecol. 2007;197:457 e1–21. Fujimura H, Kambayashi J, Monden M, Kato H, Miyata T. Coagulation factor V Leiden mutation may have a racial background. Thromb Haemost. 1995;74:1381–2. Miyata T, Kawasaki T, Fujimura H, Uchida K, Tsushima M, Kato H. The prothrombin gene G20210A mutation is not found among Japanese patients with deep vein thrombosis and healthy individuals. Blood Coagul Fibrinolysis. 1998;9:451–2. Miyata T, Kimura R, Kokubo Y, Sakata T. Genetic risk factors for deep vein thrombosis among Japanese: importance of protein S K196E mutation. Int J Hematol. 2006;83:217–23. De Stefano V, Finazzi G, Mannucci PM. Inherited thrombophilia: pathogenesis, clinical syndromes, and management. Blood. 1996;87:3531–44. Tait RC, Walker ID, Perry DJ, Islam SI, Daly ME, McCall F, et al. Prevalence of antithrombin deficiency in the healthy population. Br J Haematol. 1994;87:106–12. Tait RC, Walker ID, Reitsma PH, Islam SI, McCall F, Poort SR, et al. Prevalence of protein C deficiency in the healthy population. Thromb Haemost. 1995;73:87–93. Sakata T, Okamoto A, Mannami T, Matsuo H, Miyata T. Protein C and antithrombin deficiency are important risk factors for deep vein thrombosis in Japanese. J Thromb Haemost. 2004;2:528–30. Dykes AC, Walker ID, McMahon AD, Islam SI, Tait RC. A study of protein S antigen levels in 3788 healthy volunteers: influence of age, sex and hormone use, and estimate for prevalence of deficiency state. Br J Haematol. 2001;113:636–41. Sakata T, Okamoto A, Mannami T, Tomoike H, Miyata T. Prevalence of protein S deficiency in the Japanese general population: the Suita Study. J Thromb Haemost. 2004;2:1012–3. Kinoshita S, Iida H, Inoue S, Watanabe K, Kurihara M, Wada Y, et al. Protein S and protein C gene mutations in Japanese deep vein thrombosis patients. Clin Biochem. 2005;38:908–15. Miyata T, Sato Y, Ishikawa J, Okada H, Takeshita S, Sakata T, et al. Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis. Thromb Res. 2009;124:14–8. Kimura R, Honda S, Kawasaki T, Tsuji H, Madoiwa S, Sakata Y, et al. Protein S-K196E mutation as a genetic risk factor for deep vein thrombosis in Japanese patients. Blood. 2006;107:1737–8. Ikejiri M, Wada H, Sakamoto Y, Ito N, Nishioka J, Nakatani K, et al. The association of protein S Tokushima-K196E with a risk of deep vein thrombosis. Int J Hematol. 2010;92:302–5. Kimura R, Sakata T, Kokubo Y, Okamoto A, Okayama A, Tomoike H, et al. Plasma protein S activity correlates with protein S genotype but is not sensitive to identify K196E mutant carriers. J Thromb Haemost. 2006;4:2010–3. Yamazaki T, Sugiura I, Matsushita T, Kojima T, Kagami K, Takamatsu J, et al. A phenotypically neutral dimorphism of protein S: the substitution of Lys155 by Glu in the second EGF domain predicted by an A to G base exchange in the gene. Thromb Res. 1993;70:395–403. Comp PC, Thurnau GR, Welsh J, Esmon CT. Functional and immunologic protein S levels are decreased during pregnancy. Blood. 1986;68:881–5. Granata A, Sobbrio GA, D’Arrigo F, Barillari M, De Luca P, Egitto M, et al. Changes in the plasma levels of proteins C and S in young women on low-dose oestrogen oral contraceptives. Clin Exp Obstet Gynecol. 1991;18:9–12. Mitsuguro M, Sakata T, Okamoto A, Kameda S, Kokubo Y, Tsutsumi Y, et al. Usefulness of antithrombin deficiency phenotypes for risk assessment of venous thromboembolism: type I deficiency as a strong risk factor for venous thromboembolism. Int J Hematol. 2010;92:468–73. Miyakis S, Lockshin MD, Atsumi T, Branch DW, Brey RL, Cervera R, et al. International consensus statement on an update of the classification criteria for definite antiphospholipid syndrome (APS). J Thromb Haemost. 2006;4:295–306. Kimura R, Kokubo Y, Miyashita K, Otsubo R, Nagatsuka K, Otsuki T, et al. Polymorphisms in vitamin K-dependent gamma-carboxylation-related genes influence interindividual variability in plasma protein C and protein S activities in the general population. Int J Hematol. 2006;84:387–97. Antonarakis SE. Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group. Hum Mutat. 1998;11:1–3. Tsuda H, Hattori S, Tanabe S, Iida H, Nakahara M, Nishioka S, et al. Screening for aetiology of thrombophilia: a high prevalence of protein S abnormality. Ann Clin Biochem. 1999;36:423–32.