摘要目的:探讨JAK2V617F基因突变布-加综合征（BCS）患者的临床特征。方法:以2016年1月至2020年12月徐州医科大学附属医院连续收治并行介入治疗的17例JAK2V617F基因突变BCS患者（突变组）为研究对象，与同期连续收治的127例非JAK2V617F基因突变BCS患者（非突变组）进行对比研究。回顾性分析两组患者住院及随访资料。随访截止时间为2021年6月。采用独立样本 t检验及Wilcoxon秩和检验分析定量资料组间差异性，采用 χ2检验或Fisher确切概率法分析定性资料组间差异性，采用Mann-Whitney U 检验分析等级资料组间差异，采用Kaplan-Meier法计算患者生存率及复发率。 结果:突变组年龄［（35.41±17.10）岁比（50.09±14.16）岁， t=3.915， P<0.001］、发病时间（中位数3个月比12个月）、累积生存率（65.5%比95.1%； χ2=5.21， P=0.022）低于非突变组；突变组天冬氨酸转氨酶、丙氨酸转氨酶、凝血酶原时间、Child-Pugh评分、Rotterdam评分、终末期肝病模型评分、肝静脉血栓发生率、介入术后累积复发率均高于非突变组。以上各个指标组间比较差异均有统计学意义（ P<0.05）。 结论:与非JAK2V617F基因突变BCS患者相比，JAK2V617F基因突变BCS患者具有更年轻、发病急、肝脏损伤重、肝静脉血栓发生率高及预后差的特点。

abstractsObjective:To investigate the clinical features of JAK2V617F gene mutation and non-mutation in patients with Budd-Chiari syndrome (BCS).Methods:17 and 127 BCS cases with JAK2V617F gene mutation (mutation group) and non-gene mutation (non-mutation group) who were continuously treated with interventional therapy between January 2016 to December 2020 in the Affiliated Hospital of Xuzhou Medical University were selected as the research object for a comparative study. The hospitalization and follow-up data of the two groups were analyzed retrospectively, and the deadline for follow-up was June 2021. Quantitative data group differences were analyzed using the independent sample t-test and Wilcoxon rank sum test. Qualitative data group differences were analyzed with χ2 test or Fisher's exact test. Mann-Whitney U test was used to analyze the differences between groups in rank data. Kaplan-Meier method was used to calculate the patient survival and recurrence rate. Results:Age [(35.41±17.10) years vs. (50.09±14.16) years, t=3.915, P<0.001], time of onset (median duration: 3 months vs. 12 months), and the cumulative survival rate (65.5% vs 95.1%; χ2=5.21, P=0.022) were lower in mutation than non-mutation group. Aaspartate aminotransferase, alanine aminotransferase, prothrombin time, Child-Pugh score, Rotterdam score, Model for End-stage Liver Disease score, hepatic vein thrombosis incidence, and the cumulative recurrence rate after intervention were higher in mutation than non-mutation group. The above all indexes had statistically significant differences ( P<0.05) between the groups. Conclusion:Younger age, acute onset, severe liver injury, high incidence of hepatic vein thrombosis, and poor prognosis are the features of patients with BCS with JAK2V617F gene mutation than non-mutation.