遗传性血栓性血小板减少性紫癜的诊断及治疗进展  

Advance in the diagnosis and treatment of hereditary thrombotic thrombocytopenic purpura

作　　者：刘婉莹 肖毅[1] Liu Wanying;Xiao Yi(Department of Hematology,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan,Hubei 430030,China)

机构地区：[1]华中科技大学同济医学院附属同济医院血液科,武汉430030

出　　处：《中华医学遗传学杂志》2022年第4期442-446,共5页Chinese Journal of Medical Genetics

摘　　要：遗传性血栓性血小板减少性紫癜(congenital thrombotic thrombocytopenic purpura,cTTP)也被称为Upshaw-Schulman综合征,是一种罕见的常染色体隐性遗传病。主要的发病机制为位于染色体9q34上的纯合或双杂合的血管假性血友病因子裂解酶(ADAMTS13)基因突变,使血浆中裂解血管假性血友病因子(von Willebrand factor,vWF)多聚体的ADAMTS13严重缺乏,微血管血栓的风险增高,导致各种并发症。随着对cTTP发病机制的研究不断完善,重组人ADAMTS13和基因治疗在cTTP治疗方面取得了突破性进展,本文对cTTP的诊断与治疗的最新进展进行综述。Congenital thrombotic thrombocytopenic purpura,also known as Upshaw-Schulman syndrome,is a rare autosomal recessive genetic disorder.The main pathogenesis is homozygous or compound heterozygous variants of von Willebrand factor lyase(ADAMTS13)gene mapped to chromosome 9q34,which may result in severe lack of ADAMTS13 which cleaves von Willebrand factor(vWF)multimers in the plasma and increase the risk of microvascular thrombosis,leading to various complications.The advance of research on the pathogenesis of cTTP,recombinant human ADAMTS13 and gene therapy have made breakthroughs which may lead to cure of cTTP.This article has provided a review for the latest progress made in the diagnosis and treatment of cTTP.

关 键 词：血栓性血小板减少性紫癜 血管假性血友病因子裂解蛋白酶 血浆输注 重组人ADAMTS13 基因治疗 

分 类 号：R554.6[医药卫生—血液循环系统疾病]