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磁共振静脉造影及女性盆腔静脉血栓形成患者的遗传学研究。

Magnetic resonance venography and genetics of a female patient with pelvic venous thrombosis.

机构信息

Philips Healthcare, 595 Miner Road, Cleveland, OH 44143, USA.

出版信息

J Thromb Thrombolysis. 2010 Aug;30(2):233-9. doi: 10.1007/s11239-010-0443-y.

Abstract

A femoral vein thrombosis, originally diagnosed with conventional ultrasound, was fully elucidated and monitored utilizing serial high-resolution magnetic resonance venography in a 19-year-old female with a family history of venous thromboembolism. Genetic testing revealed she was heterozygous for a F5 gene mutation, an abnormality that predisposes carriers to factor V Leiden thrombophilia. An additional risk factor included use of oral contraceptive pills. Subsequent testing of her family uncovered other carriers of the mutation, allowing for the implementation of preventive measures for the entire family. Although magnetic resonance venography has not yet proven to be a cost-effective method for monitoring clot resolution, the case presented here encourages further research on the clinical utility and cost-benefit of utilizing this technology for monitoring venous thrombosis and for clinical management purposes.

摘要

一名 19 岁的女性因有静脉血栓栓塞家族史,最初经常规超声检查诊断为股静脉血栓,后通过系列高分辨率磁共振静脉造影术得以充分阐明和监测。基因检测显示她携带 F5 基因突变杂合子,这种异常使携带者易患因子 V 莱顿血栓形成倾向。另一个危险因素包括口服避孕药的使用。对其家族的进一步检测发现了其他突变携带者,从而为整个家族实施预防措施提供了可能。尽管磁共振静脉造影术尚未被证明是一种监测血栓溶解的经济有效的方法,但本病例鼓励进一步研究该技术在监测静脉血栓形成和临床管理方面的临床实用性和成本效益。

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