PDF(Pubmed)
Abstract：
OBJECTIVE: Patients with COVID-19 infection appear to develop virus-induced hypercoagulability resulting in numerous thrombotic events. The aim of the present study was to determine the relationship between the thrombophilia genes mutations (prothrombin G20210A, factor V Leiden, and methyltetrahydrofolate reductase (MTHFR)) and the severity of COVID-19 patients.
METHODS: Prospective cross-sectional study.
METHODS: One hundred and forty patients (80 adults and 60 children) were included in the current study. They were divided into the severe COVID-19 group and the mild COVID-19 group, with each group comprising 40 adults and 30 children. The patients were assessed for FV R506Q, FV R2H1299R, MTHFR A1298C, MTHFR C677T, and prothrombin gene G20210A polymorphisms. CBC, D-dimer, renal and liver function tests, hs-CRP, ferritin, and LDH were also assessed. Thrombotic events were clinically and radiologically documented.
RESULTS: Severe COVID-19 cases were significantly more frequent to have a heterozygous mutation for all the studied genes compared to mild COVID-19 cases (p<0.05 for all). Being mutant to gene FV R506Q carried the highest risk of developing a severe disease course (p<0.0001). Patients with abnormally high D-dimer levels were significantly more frequent to be heterozygous for FV R506Q, FV R2H1299R, and prothrombin gene G20210A (p = 0.006, 0.007, and 0.02, respectively).
CONCLUSIONS: We concluded that there is an evident relationship between severe COVID-19 and inherited thrombophilia. In the current study, FV R506Q gene mutation carried the highest risk of developing a severe COVID-19 disease course.
METHODS: Prospective cross-sectional study.
METHODS: One hundred and forty patients (80 adults and 60 children) were included in the current study. They were divided into the severe COVID-19 group and the mild COVID-19 group, with each group comprising 40 adults and 30 children. The patients were assessed for FV R506Q, FV R2H1299R, MTHFR A1298C, MTHFR C677T, and prothrombin gene G20210A polymorphisms. CBC, D-dimer, renal and liver function tests, hs-CRP, ferritin, and LDH were also assessed. Thrombotic events were clinically and radiologically documented.
RESULTS: Severe COVID-19 cases were significantly more frequent to have a heterozygous mutation for all the studied genes compared to mild COVID-19 cases (p<0.05 for all). Being mutant to gene FV R506Q carried the highest risk of developing a severe disease course (p<0.0001). Patients with abnormally high D-dimer levels were significantly more frequent to be heterozygous for FV R506Q, FV R2H1299R, and prothrombin gene G20210A (p = 0.006, 0.007, and 0.02, respectively).
CONCLUSIONS: We concluded that there is an evident relationship between severe COVID-19 and inherited thrombophilia. In the current study, FV R506Q gene mutation carried the highest risk of developing a severe COVID-19 disease course.
摘要：
目的：COVID-19感染患者出现病毒诱导的高凝状态，导致许多血栓事件。本研究的目的是确定血栓性基因突变(凝血酶原G20210A，因子V莱顿，和甲基四氢叶酸还原酶（MTHFR）和COVID-19患者的严重程度。
方法：前瞻性横断面研究。
方法：本研究纳入了150名患者（80名成人和60名儿童）。分为重症COVID-19组和轻度COVID-19组，每组包括40名成人和30名儿童。对患者进行FVR506Q评估，FVR2H1299R,MTHFRA1298C,MTHFRC677T,和凝血酶原基因G20210A多态性。CBC,D-二聚体,肾和肝功能测试，hs-CRP,铁蛋白,和LDH也进行了评估。临床和放射学记录了血栓事件。
结果：与轻度COVID-19病例相比，重度COVID-19病例的所有研究基因杂合突变的频率明显更高（全部p<0.05）。突变为基因FVR506Q具有发展为严重疾病过程的最高风险(p<0.0001)。D-二聚体水平异常高的患者发生FVR506Q杂合子的频率明显更高，FVR2H1299R,和凝血酶原基因G20210A（p分别为0.006、0.007和0.02）。
结论：我们得出的结论是，重症COVID-19与遗传性血栓症之间存在明显的关系。在目前的研究中,FVR506Q基因突变导致发生严重COVID-19病程的风险最高。
方法：前瞻性横断面研究。
方法：本研究纳入了150名患者（80名成人和60名儿童）。分为重症COVID-19组和轻度COVID-19组，每组包括40名成人和30名儿童。对患者进行FVR506Q评估，FVR2H1299R,MTHFRA1298C,MTHFRC677T,和凝血酶原基因G20210A多态性。CBC,D-二聚体,肾和肝功能测试，hs-CRP,铁蛋白,和LDH也进行了评估。临床和放射学记录了血栓事件。
结果：与轻度COVID-19病例相比，重度COVID-19病例的所有研究基因杂合突变的频率明显更高（全部p<0.05）。突变为基因FVR506Q具有发展为严重疾病过程的最高风险(p<0.0001)。D-二聚体水平异常高的患者发生FVR506Q杂合子的频率明显更高，FVR2H1299R,和凝血酶原基因G20210A（p分别为0.006、0.007和0.02）。
结论：我们得出的结论是，重症COVID-19与遗传性血栓症之间存在明显的关系。在目前的研究中,FVR506Q基因突变导致发生严重COVID-19病程的风险最高。
