血栓性非硬化门脉高压症的遗传易感性研究进展  

Research progress on genetic susceptibility to thrombotic non-cirrhotic portal hypertension

作　　者：马文霞 贺子龙 丁惠国 吕翎娜 MA Wenxia;HE Zilong;DING Huiguo;LYU Lingna(Department of Gastroenterology and Hepatology,Beijing You'an Hospital/Laboratory for Clinical Medicine,Capital Medical University,Beijing 100069,China;School of Engineering Medicine,Beihang University,Beijing 100191,China)

机构地区：[1]首都医科大学附属北京佑安医院肝病消化中心/首都医科大学基础临床联合实验室,北京100069 [2]北京航空航天大学医学科学与工程学院,北京100191

出　　处：《国际检验医学杂志》2024年第19期2305-2310,共6页International Journal of Laboratory Medicine

基　　金：国家自然科学基金项目(82372260);北京市自然科学基金海淀原始创新联合项目(L202023);北京佑安医院人才库项目(YARCKB2023003)。

摘　　要：肝外型非硬化门脉高压症(NH-PH)是以肝外非硬化门静脉血栓形成和Budd-Chiari综合征(布加综合征)为代表的门脉高压疾病,二者的病因都归于内脏静脉血栓,具有多种共同的遗传易感因素。该文综述了血栓性NH-PH的遗传易感性研究进展,并对已报道的遗传易感基因及其突变位点进行整理分析,同时提示其他潜在的遗传易感基因靶点,以期为后续临床大样本验证提供筛选靶标,为NH-PH的早期诊断和发病机制研究提供新思路。Extrahepatic non-cirrhotic portal hypertension(NH-PH),a disease of portal hypertension represented by extrahepatic non-cirrhotic portal vein thrombosis and budd-chiari syndrome,both of which are caused by splanchnic vein thrombosis and share a variety of common genetic susceptibility factors.The review summarized the research progress on genetic susceptibility to thrombotic NH-PH in recent decades,collating the reported genetic susceptibility genes and their mutation loci,as well as suggesting other potential gene targets.The results of the study provided screening targets for subsequent large-sample validation in clinic,and delivered new ideas for the development of early diagnostic methods and pathogenesis of NH-PH.

关 键 词：非硬化门脉高压症 血栓 布加综合征 遗传易感性 

分 类 号：R575.2[医药卫生—消化系统]