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一名年轻 COVID-19 患者存在罕见纯合子凝血酶原 G20210A 突变，发生严重全身性血栓形成。

Severe systemic thrombosis in a young COVID-19 patient with a rare homozygous prothrombin G20210A mutation.

机构信息

Department of Clinical and Experimental Medicine, Infectious Diseases Unit, University of Foggia, Foggia, Italy.

Department of Clinical and Experimental Medicine, Infectious Diseases Unit, University of Foggia, Foggia, Italy; Department of Clinical and Experimental Medicine, Section of Genetics, University of Foggia, Foggia, Italy.

出版信息

Infez Med. 2021 Jun 1;29(2):259-262.

PMID:34061792
Abstract

COVID-19 patients may experience a hypercoagulable condition, leading to thrombotic events. We describe a patient with COVID-19, carrying a rare homozygous mutation of the prothrombin gene, who developed a severe systemic vein thrombosis. In COVID-19 patients with hypercoagulability disorders the most common inherited and acquired risk factors should be investigated.

摘要

COVID-19 患者可能会出现高凝状态，导致血栓形成事件。我们描述了一例 COVID-19 患者，携带凝血酶原基因的罕见纯合突变，发生严重的全身静脉血栓形成。在存在高凝状态障碍的 COVID-19 患者中，应调查最常见的遗传性和获得性风险因素。

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Severe systemic thrombosis in a young COVID-19 patient with a rare homozygous prothrombin G20210A mutation.一名年轻 COVID-19 患者存在罕见纯合子凝血酶原 G20210A 突变，发生严重全身性血栓形成。
Infez Med. 2021 Jun 1;29(2):259-262.
2
Homozygous Carrier of Prothrombin G20210A Mutation with Massive Pulmonary Embolism and His Family: Gender Differences of Susceptibility to Mutation.凝血酶原G20210A突变纯合子携带者合并大面积肺栓塞及其家族：突变易感性的性别差异
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Prothrombin G20210A Gene Mutation-Induced Recurrent Deep Vein Thrombosis and Pulmonary Embolism: Case Report and Literature Review.凝血酶原G20210A基因突变所致复发性深静脉血栓形成和肺栓塞：病例报告及文献复习
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Phenotypic Heterogeneity in Patients with Homozygous Prothrombin 20210AA Genotype. A paper from the 2005 William Beaumont Hospital Symposium on Molecular Pathology.纯合子凝血酶原20210AA基因型患者的表型异质性。一篇来自2005年威廉·博蒙特医院分子病理学研讨会的论文。
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Risk of venous thrombosis in carriers of the prothrombin G20210A variant and factor V Leiden and their interaction with oral contraceptives.凝血酶原G20210A变异体和因子V莱顿突变携带者发生静脉血栓形成的风险及其与口服避孕药的相互作用。
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[20210G/A mutation of prothrombin gene in a patient with deep venous thrombosis ad pulmonary embolism without other risk factors of thrombosis].[一名无其他血栓形成危险因素的深静脉血栓形成和肺栓塞患者凝血酶原基因的20210G/A突变]
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A boy with venous thrombosis, homozygous for factor V Leiden, prothrombin G20210A and MTHFR C667t mutations, but belonging to an asymptomatic family.一名患有静脉血栓形成的男孩，为凝血因子V莱顿、凝血酶原G20210A和亚甲基四氢叶酸还原酶C667t突变的纯合子，但来自一个无症状家族。
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Risk of recurrent venous thrombosis in homozygous carriers and double heterozygous carriers of factor V Leiden and prothrombin G20210A.因子 V 莱顿和凝血酶原 G20210A 纯合子携带者和双重杂合子携带者复发性静脉血栓形成的风险。
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Saddle pulmonary embolism as the initial presentation of prothrombin gene mutation G20210A.鞍状肺栓塞作为凝血酶原基因突变G20210A的首发表现。
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Prothrombin G20210A Gene Mutation-Induced Recurrent Deep Vein Thrombosis and Pulmonary Embolism: Case Report and Literature Review.凝血酶原G20210A基因突变所致复发性深静脉血栓形成和肺栓塞：病例报告及文献复习
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