颅外动静脉畸形的基因学研究进展  

Current understanding of the genetics of extracranial arteriovenous malformation

作　　者：乔丛蓁 金云波[1] 邹运[1] 华晨[1] 杨希[1] 林晓曦[1] Qiao Congzhen;Jin Yunbo;Zou Yun;Hua Chen;Yang Xi;Lin Xiaoxi(Department of Plastic and Reconstructive Surgery Shanghai Ninth People＇s Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200011 China)

机构地区：[1]上海交通大学医学院附属第九人民医院整复外科,200011

出　　处：《中华整形外科杂志》2018年第9期777-780,共4页Chinese Journal of Plastic Surgery

摘　　要：动静脉畸形是一种因动、静脉间缺乏正常毛细血管床所致的先天性疾病.在毛细血管畸形-动静脉畸形、遗传性出血性毛细血管扩张症、PTEN错构瘤肿瘤综合征等罕见遗传性疾病中,动静脉畸形往往是其最主要的特征性病症.对于动静脉畸形的基因学探究将有助于动静脉畸形的临床诊疗.该文分别从血管胚胎期发育的基因调节机制、遗传性出血性毛细血管扩张症的基因突变分类、PTEN错构瘤肿瘤综合征的基因学基础,以及毛细血管畸形-动静脉畸形的基因型命名规则,对动静脉畸形领域的最新基因研究进展进行了综述.此外,对于最近提出的动静脉畸形中体细胞突变理论进行了整理归纳,以期提高对这一疾病的认知,开拓临床治疗新思路.Arteriovenous malformation （AVM） is defined as a congenital vascular anomaly that shunts blood from arteries to veins with no capillary perfusion.In some rare hereditary diseases,including capillary malformation-arteriovenous malformation （CM-AVM）,hereditary hemorrhagic telangiectasia （HHT）,PTEN hamartoma-tumor syndrome （PHTS）,AVM is generally considered the characteristic clinic presentation.This review primarily focused on the mechanisms of genetic regulation during embryonic vasculature development,genetic mutations in TGF-beta signaling pathway of HHT,PTEN mutations in PHTS and genetic screening of CM-AVM.In addition,current findings in somatic mutations of extracranial AVM were discussed as well.This review aimed to provide insight into the etiology to help the diagnosis and treatment of extracranial AVM in clinic.

关 键 词：动静脉畸形 毛细血管畸形-动静脉畸形 遗传性出血性毛细血管扩张症 PTEN错构瘤综合征 

分 类 号：R543[医药卫生—心血管疾病]