遗传性出血性毛细血管扩张症研究进展  

Hereditary hemorrhagic telangiectasia

作　　者：秦丽丽 高笑宇 孙德俊 QIN Li-li;GAO Xiao-yu;SUN De-jun(Graduate School of Inner Mongolia Medical University,Hohhot,Inner Mongolia Autonomous Region 010010,China;Department of Respiratory Medicine,People's Hospital of Inner Mongolia Autonomous Region,Key Laboratory of Diagnosis and Treatment of COPD of National Health Commission,Hohhoh Inner Mongolia Autonomous Region 010000,China)

机构地区：[1]内蒙古医科大学研究生学院,内蒙古自治区呼和浩特010010 [2]内蒙古自治区人民医院呼吸内科国家卫健委慢阻肺诊治重点实验室,内蒙古自治区呼和浩特010000

出　　处：《中华实用诊断与治疗杂志》2021年第6期642-644,共3页Journal of Chinese Practical Diagnosis and Therapy

基　　金：中国医学科学院中央级公益性科研院所基本科研业务费专项资金资助项目(2019PT350001)。

摘　　要：遗传性出血性毛细血管扩张症(hereditary hemorrhagic telangiectasia, HHT)是以毛细血管结构异常、内皮细胞功能异常为特征的常染色体遗传病。患者可因出血、感染等并发症而死亡。HHT患者主要临床表现为反复鼻衄,皮肤黏膜毛细血管扩张,器官尤其是肝、脑、肺、消化道等内脏血管的动静脉畸形,有明确家族遗传史。尽管目前在HHT的诊断及分子、细胞和动物模型方面取得较大进展,但尚无治疗HHT的有效方法,临床仍以对症治疗和预防为主。本文就HHT的分子遗传学发病机制、病理生理机制和主要临床表现的研究进展作一综述。Hereditary hemorrhagic telangiectasia(HHT) is an autosomal hereditary disease characterized by abnormal capillary structure and endothelial dysfunction. Patients with HHT would die of the complications such as hemorrhage and infection. The HHT patients are mainly clinically manifested by recurrent epistaxis, telangiectasia of skin and mucosa, arteriovenous malformations of the organs, especially the liver, brain, lung, digestive tract and other visceral vessels, and have a clear family genetic history. Although a great progress has been made in the diagnosis and molecular, cellular and animal models of HHT, no effective therapy method has been found up to now, and the symptomatic therapy and prevention are still the main clinical countermeasures. This paper reviews the molecular genetic pathogenesis, pathophysiological mechanism and main clinical manifestations of HHT.

关 键 词：遗传性出血性毛细血管扩张症 常染色体遗传病 分子遗传学 

分 类 号：R543.7[医药卫生—心血管疾病]