Suppr超能文献

急性深静脉血栓形成患者中对华法林治疗反应不佳的凝血酶原基因G20210A突变

Prothrombin gene G20210A mutation in acute deep venous thrombosis patients with poor response to warfarin therapy.

作者信息

Attia F M, Mikhailidis D P, Reffat S A

机构信息

Department of Clinical Pathology, Faculty of Medicine, Suez Canal University, Ismailia, Egypt.

出版信息

Open Cardiovasc Med J. 2009 Oct 21;3:147-51. doi: 10.2174/1874192400903010147.

Abstract

AIM

The pathogenesis of deep venous thrombosis (DVT) involves an interaction between hereditary and acquired factors. Prothrombin gene mutation is one of the hereditary risk factors. We evaluated the frequency of the prothrombin gene mutation in patients with DVT and its relation to oral warfarin anticoagulant therapy response.

METHODS

Prothrombin gene mutation was looked for in 40 DVT patients with poor response to warfarin. The results were compared with 40 DVT patients with a normal response to warfarin and 30 healthy blood donors. Blood samples were also assessed for protein C, protein S, anti-thrombin III and anticardiolipin antibodies (ACA) levels.

RESULTS

Prothrombin gene mutation was found in normal and poor DVT responders (6/40 and 13/40, respectively; p = NS) as well as in healthy controls (1/30). Patients with recurrent DVT or a family history of DVT were significantly (p<0.0001) more likely to have the prothrombin mutation than other DVT patients. Non prothrombin abnormalities (protein C, anti-thrombin III and ACA) were more common in poor responders than controls (p<0.0037) as were ACA (p<0.034).

CONCLUSIONS

Prothrombin gene mutation is present in several DVT patients, especially those with recurrent DVT or a family history of DVT. This mutation may contribute to a poor response to warfarin.

摘要

目的

深静脉血栓形成(DVT)的发病机制涉及遗传因素与后天因素之间的相互作用。凝血酶原基因突变是遗传危险因素之一。我们评估了DVT患者中凝血酶原基因突变的频率及其与口服华法林抗凝治疗反应的关系。

方法

在40例对华法林反应不佳的DVT患者中寻找凝血酶原基因突变。将结果与40例对华法林反应正常的DVT患者和30名健康献血者进行比较。还对血样进行了蛋白C、蛋白S、抗凝血酶III和抗心磷脂抗体(ACA)水平的评估。

结果

在对华法林反应正常和不佳的DVT患者中均发现了凝血酶原基因突变(分别为6/40和13/40;p =无显著性差异),在健康对照者中也有发现(1/30)。与其他DVT患者相比,复发性DVT患者或有DVT家族史的患者发生凝血酶原突变的可能性显著更高(p<0.0001)。非凝血酶原异常(蛋白C、抗凝血酶III和ACA)在反应不佳者中比对照组更常见(p<0.0037),ACA也是如此(p<0.034)。

结论

凝血酶原基因突变存在于一些DVT患者中,尤其是那些有复发性DVT或DVT家族史的患者。这种突变可能导致对华法林反应不佳。

相似文献

1
Prothrombin gene G20210A mutation in acute deep venous thrombosis patients with poor response to warfarin therapy.
Open Cardiovasc Med J. 2009 Oct 21;3:147-51. doi: 10.2174/1874192400903010147.
5
Risk of recurrent venous thrombosis in patients with G20210A mutation in the prothrombin gene or factor V Leiden mutation.
Blood Coagul Fibrinolysis. 2006 Jan;17(1):23-8. doi: 10.1097/01.mbc.0000201488.33143.09.
8
Risk factors and recurrence rate of primary deep vein thrombosis of the upper extremities.
Circulation. 2004 Aug 3;110(5):566-70. doi: 10.1161/01.CIR.0000137123.55051.9B. Epub 2004 Jul 19.

引用本文的文献

1
VKORC1 polymorphisms and complete resistance to vitamin K antagonists: About two cases.
Biomedicine (Taipei). 2024 Mar 1;14(1):60-63. doi: 10.37796/2211-8039.1434. eCollection 2024.
2
Heritable Thrombophilia in Venous Thromboembolism in Northern Pakistan: A Cross-Sectional Study.
Adv Hematol. 2021 Oct 25;2021:8317605. doi: 10.1155/2021/8317605. eCollection 2021.
3
C20209T prothrombin gene mutation associated deep venous thrombosis in a hemodialysis patient.
Clin Nephrol Case Stud. 2014 Jan 15;2:1-4. doi: 10.5414/CNCS107984. eCollection 2014.
4
Progress in research into the genes associated with venous thromboembolism.
World J Emerg Med. 2015;6(2):100-4. doi: 10.5847/wjem.j.1920-8642.2015.02.003.
6
Epidemiology of Prothrombin G20210A Mutation in the Mediterranean Region.
Mediterr J Hematol Infect Dis. 2011;3(1):e2011054. doi: 10.4084/MJHID.2011.054. Epub 2011 Nov 28.

本文引用的文献

2
A coding VKORC1 Asp36Tyr polymorphism predisposes to warfarin resistance.
Blood. 2007 Mar 15;109(6):2477-80. doi: 10.1182/blood-2006-08-038984. Epub 2006 Nov 16.
3
Prevalence of prothrombin gene mutation (G-A 20210 A) in general population: a pilot study.
Clin Appl Thromb Hemost. 2006 Apr;12(2):223-6. doi: 10.1177/107602960601200212.
4
The genetic basis of resistance to anticoagulants in rodents.
Genetics. 2005 Aug;170(4):1839-47. doi: 10.1534/genetics.104.040360. Epub 2005 May 6.
6
Cardiology patient pages. Prothrombin 20210 mutation (factor II mutation).
Circulation. 2004 Jul 20;110(3):e15-8. doi: 10.1161/01.CIR.0000135582.53444.87.
9
Warfarin monitoring in patients with anticardiolipin antibodies, but without lupus anticoagulants.
Thromb Res. 2000 Sep 1;99(5):477-82. doi: 10.1016/s0049-3848(00)00279-6.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验