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Congenital Thrombophilia in Patients With Superior Mesenteric Venous Thrombosis or Portal Vein Thrombosis

机译:肠系膜上静脉血栓形成或门静脉血栓形成的患者的先天性血友病

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We explored the relationship between abdominal vein thromboses, including portal vein thrombosis (PVT) and superior mesenteric vein thrombosis (SMVT), and thrombophilia. The frequency of thrombophilia, such as antithrombin (AT), protein C (PC), or protein S (PS) gene mutations, was examined in 21 patients with PVT, 6 patients with SMVT, and 6 patients with both PVT and SMVT. Low levels of AT, PC, or PS were frequently detected in patients with PVT or mesenteric vein thrombosis, and 4 mutations in the PS gene, 3 mutations in the PC gene, and 2 mutations in AT the gene were detected. Protein S Tokushima was detected in 3 of 4 patients with a PS gene mutation and was associated with 2 other PS gene mutations. The onset of PVT or SMVT was almost idiopathic in patients with congenital thrombophilia. Both PVT and SMVT were frequently caused by an AT, a PC, or a PS mutation, and the onset of these thromboses due to thrombophilia was frequently idiopathic.
机译:我们探讨了腹腔静脉血栓形成(包括门静脉血栓形成(PVT)和肠系膜上静脉血栓形成(SMVT))与血栓形成之间的关系。在21例PVT患者,6例SMVT患者和6例PVT和SMVT患者中检查了血栓形成的频率,例如抗凝血酶(AT),蛋白C(PC)或蛋白S(PS)基因突变。在患有PVT或肠系膜静脉血栓形成的患者中经常检测到低水平的AT,PC或PS,并且检测到PS基因中的4个突变,PC基因中的3个突变和AT基因中的2个突变。在4名有PS基因突变的患者中,有3名检测到了S蛋白Tokushima,并与另外2个PS基因突变相关。先天性血友病患者的PVT或SMVT发作几乎是特发性的。 PVT和SMVT经常是由AT,PC或PS突变引起的,由于血友病引起的这些血栓形成常是特发性的。

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