Chamouard P, Pencreach E, Maloisel F, Grunebaum L, Ardizzone J F, Meyer A, Gaub M P, Goetz J, Baumann R, Uring-Lambert B, Levy S, Dufour P, Hauptmann G, Oudet P
Service d'Hépato-Gastroentérologie et d'Assistance Nutritive, Hôpital de Hautepierre, France.
Gastroenterology. 1999 Jan;116(1):144-8. doi: 10.1016/s0016-5085(99)70238-6.
BACKGROUND & AIMS: Despite extensive investigations of portal vein thrombosis, no underlying cause is identifiable in up to 30% of patients. A recently described mutation of the prothrombin gene at nucleotide position 20210 is associated with history of venous thrombosis and was assessed in this study.
We compared the frequency of factor II G20210A and factor V G1691A (factor V Leiden) mutations in 10 patients with idiopathic portal vein thrombosis, 10 patients with nonidiopathic portal vein thrombosis, 60 patients with deep vein thrombosis of the legs, and 42 control subjects.
The frequency of factor II G20210A mutation was increased in patients with idiopathic portal vein thrombosis (40.0%; confidence interval, 3.1%-76.9%) compared with controls (4.8%; confidence interval, 0%-11.5%) or patients with nonidiopathic portal vein thrombosis or deep vein thrombosis (P = 0.0001). In contrast, the frequency of the factor V G1691A mutation was similar in subjects with portal vein thrombosis and in controls but was increased in patients with deep vein thrombosis (P = 0.0001).
The factor II G20210A mutation is frequent in patients with idiopathic portal vein thrombosis and should therefore be assessed under this circumstance.
尽管对门静脉血栓形成进行了广泛研究，但高达30%的患者仍无法确定潜在病因。本研究评估了最近描述的凝血酶原基因第20210位核苷酸的突变与静脉血栓形成病史之间的关系。
我们比较了10例特发性门静脉血栓形成患者、10例非特发性门静脉血栓形成患者、60例下肢深静脉血栓形成患者和42例对照者中凝血因子II G20210A和凝血因子V G1691A（因子V莱顿）突变的频率。
与对照组（4.8%；置信区间，0%-11.5%）或非特发性门静脉血栓形成或深静脉血栓形成患者相比，特发性门静脉血栓形成患者中凝血因子II G20210A突变的频率增加（40.0%；置信区间，3.1%-76.9%）（P = 0.0001）。相比之下，门静脉血栓形成患者和对照组中凝血因子V G1691A突变的频率相似，但深静脉血栓形成患者中该突变频率增加（P = 0.0001）。
凝血因子II G20210A突变在特发性门静脉血栓形成患者中很常见，因此在这种情况下应进行评估。
