血管性血友病的分子机制及诊治研究进展  

Research advances in molecular mechanism,diagnosis and treatment of von Willebrand disease

作　　者：罗婧媛(综述) 陈姝(审校)[1] LUO Jingyuan;CHEN Shu(Department of Hematology,Second Affiliated Hospital of Chongqing Medical University,Chongqing 400010,China)

机构地区：[1]重庆医科大学附属第二医院血液内科,重庆400010

出　　处：《检验医学与临床》2023年第12期1783-1789,共7页Laboratory Medicine and Clinic

摘　　要：血管性血友病(VWD)是最常见的常染色体遗传性出血性疾病,由血管性血友病因子(VWF)定量或定性缺陷引起。VWD具有遗传异质性,分子致病机制和临床表型复杂,其诊断和治疗面临挑战。近年来,对VWD患者VWF基因突变的识别提高了对VWF蛋白结构和功能的理解,增强了对VWD发病机制的认识。新型检查方法和新型药物的问世给VWD的诊治带来了突破。该文旨在对VWD的分子遗传学和诊治研究现状及进展进行综述。von Willebrand disease(VWD)is the most common autosomal inherited bleeding disease caused by quantitative or qualitative deficiency of von Willebrand factor(VWF).VWD possesses genetically heterogeneous,with complex molecular pathogenic mechanisms and clinical phenotypes,and its diagnosis and treatment face challenges.In recent years,the identification of mutations in VWF gene in the patients with VWD improves the understanding of the structure and function of VWF protein and enhances the cognition on the molecular pathogenesis of VWD.The emergence of new type examination methods and new drugs has brought a breakthrough in the diagnosis and treatment of VWD.This paper aims to review the current status and progress of research on the molecular genetics and diagnosis and treatment of VWD.

关 键 词：血管性血友病 分子机制 诊断 治疗 

分 类 号：R554.1[医药卫生—血液循环系统疾病]