JAK2V617F基因突变与非突变布-加综合征患者临床特征的对比

Comparison of clinical features of JAK2V617F gene mutation and non-mutation in patients with Budd-Chiari syndrome

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χ^(2)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%;χ^(2)=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。

Objective 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 withχ^(2) 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%;χ^(2)=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.