Protein C deficiency resulting from two mutations in <ce:italic>PROC</ce:italic> presenting with recurrent venous thromboembolism

Weijia Xie; Zhenjie Liu; Bing Chen

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Protein C deficiency resulting from two mutations in PROC presenting with recurrent venous thromboembolism

机译：蛋白C缺乏症由 PROC 的两个突变引起，并伴有静脉血栓栓塞复发

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Hereditary protein C (PC) deficiency is an autosomal dominant disorder associated with a high risk of venous thromboembolism (VTE). Here we report a case of inherited PC deficiency associated with recurrent deep venous thrombosis. Two mutations were revealed in PROC (c.1152C>G, p.N384K and c.1207G>T, p.G403W) by genetic testing. Results from this case suggest that the inherited PC deficiency due to the PROC mutations may cause recurrent VTE. Long-term anticoagulant therapy may be appropriate for these patients with recurrent VTE and hereditary PC deficiency.

机译：遗传性蛋白C（PC）缺乏症是常染色体显性遗传疾病，伴有静脉血栓栓塞（VTE）的高风险。在这里，我们报告一例与复发性深静脉血栓形成相关的遗传性PC缺乏症。通过基因测试，在PROC中发现了两个突变（c.1152C> G，p.N384K和c.1207G> T，p.G403W）。该案例的结果表明，由于PROC突变而导致的遗传性PC缺乏症可能会导致VTE复发。长期抗凝治疗可能适合这些复发性VTE和遗传性PC缺乏的患者。

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《Journal of Vascular Surgery Cases and Innovative Techniques》 |2017年第4期|共3页
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Weijia Xie; Zhenjie Liu; Bing Chen;
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6. Protein C deficiency resulting from two mutations in PROC presenting with recurrent venous thromboembolism [O] . Weijia Xie, Zhenjie Liu, Bing Chen 2017

机译：蛋白C缺乏症是由PROC的两个突变引起的并伴有复发性静脉血栓栓塞
7. Protein C deficiency resulting from two mutations in PROC presenting with recurrent venous thromboembolism [O] . Weijia Xie, MD, Zhenjie Liu, MD, PhD, Bing Chen, MD, PhD 2017

机译：由pROC中的两个突变引起的蛋白C缺乏伴有复发性静脉血栓栓塞

Protein C deficiency resulting from two mutations in PROC presenting with recurrent venous thromboembolism

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