1型纤溶酶原激活物抑制剂基因突变的年轻军人的急性心肌梗死和肺栓塞

A. V. Popova, K. Shulenin, D. Cherkashin, S. Shulenin, G. G. Kutelev, D. S. Bogdanov
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引用次数: 0

摘要

急性心肌梗死合并肺栓塞1例青年士兵首次发生延续性心绞痛。调查发现,这些情况与1型纤溶酶原激活物抑制剂的基因突变之间存在联系,这种基因突变通过抑制纤溶酶的形成,导致纤溶酶溶解过程减慢和血凝块的长期存在,在纤溶酶溶解中起关键作用。证实在患者中发现的4G/4G纯合子突变导致了年轻时动脉和静脉血栓形成,并与复发倾向相关。清楚地表明,遗传性血栓病的特点是缺乏明显的诱发因素和单一的通用诊断算法;诊断是基于对实验室数据的综合评价。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Acute myocardial infarction and pulmonary embolism in a young serviceman with a mutation of the plasminogen activator inhibitor gene type 1
The clinical case of acute myocardial infarction and pulmonary embolism in a young soldier with the first occurred protracted attack of angina. The survey found the link between these conditions and gene mutation of type 1 plasminogen activator inhibitor that plays a key role in fibrinolysis by inhibiting the formation of plasmin and leading to slowdown in fibrinolysis processes and a longer-term persistence of blood clot. It is proven that homozygous 4G/4G mutation found in the patient results in the development of arterial and venous thrombosis at a young age and is associated with a tendency to relapse. It clearly shows that hereditary thrombophilia is characterized by the absence of obvious provocative factor and single universal diagnostic algorithm; the diagnosis is based on the comprehensive evaluation of laboratory data.
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