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先天性下腔静脉发育不全合并杂合子因子V莱顿突变所致深静脉血栓形成——病例报告

Deep venous thrombosis caused by congenital inferior vena cava agenesis and heterozygous factor V Leiden mutation - a case report.

作者信息

Vasco Pablo Guisado, López Angel Ruedas, Piñeiro María Laiño, Rivera José Ignacio Gallego

机构信息

Departments of Internal Medicine;

出版信息

Int J Angiol. 2009 Fall;18(3):147-9. doi: 10.1055/s-0031-1278343.

DOI:10.1055/s-0031-1278343
PMID:22477517
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2903020/
Abstract

The unusual clinical presentation, importance of imaging techniques and role of low molecular weight heparin are described for an initial treatment of thrombosis in inferior vena cava agenesis associated with heterozygous factor V Leiden. The patient, a 36-year-old woman, presented to the emergency room with sudden onset of back pain, swelling of the legs and thighs, and claudication while walking. Abdominal ultrasonography was immediately ordered. Anomalies in vascular blood flow were detected. Computed tomography was performed, and initially showed a complete absence of the infrarenal segment of inferior vena cava caudally to the origin of both renal veins. Treatment with enoxaparin (1 mg/kg twice per day) was started. The patient was discharged and returned to her activities of daily living two weeks after admission. This vascular abnormality is mostly incidentally diagnosed in adults and only a few cases are described as being associated with thrombophilia.

摘要

本文描述了在伴有杂合子因子V莱顿突变的下腔静脉发育不全患者中,血栓形成初始治疗时不寻常的临床表现、成像技术的重要性以及低分子量肝素的作用。患者为一名36岁女性,因突发背痛、腿部和大腿肿胀以及行走时跛行而就诊于急诊室。立即安排了腹部超声检查,检测到血管血流异常。随后进行了计算机断层扫描,最初显示在双侧肾静脉起源尾侧的下腔静脉肾下段完全缺失。开始使用依诺肝素(1mg/kg,每日两次)治疗。患者出院,入院两周后恢复日常生活活动。这种血管异常在成人中大多是偶然诊断出来的,仅有少数病例被描述为与血栓形成倾向有关。

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本文引用的文献

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Clinical problem-solving. Collateral damage.临床问题解决。附带损害。
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Deep venous thrombosis caused by congenital absence of inferior vena cava, combined with hyperhomocysteinemia.先天性下腔静脉缺如合并高同型半胱氨酸血症所致的深静脉血栓形成。
Ann Vasc Surg. 2004 Jan;18(1):124-9. doi: 10.1007/s10016-003-0087-x.
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Recurrent deep venous thrombosis caused by congenital interruption of the inferior vena cava and heterozygous factor V Leiden mutation.先天性下腔静脉中断和杂合子因子V莱顿突变引起的复发性深静脉血栓形成。
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Anomalies of the inferior vena cava in patients with iliac venous thrombosis.髂静脉血栓形成患者的下腔静脉异常
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