中国汉族遗传性出血性毛细血管扩张症合并肺动脉高压的基因突变及临床疗效研究  

The gene mutation and therapy of Chinese Han patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension

作　　者：步睿[1] 贾静[1] 吴建军[1] 韦宏[1] 陈延军[1] 

机构地区：[1]哈尔滨医科大学附属第四医院心内科,黑龙江哈尔滨150001

出　　处：《哈尔滨医科大学学报》2016年第1期39-43,共5页Journal of Harbin Medical University

基　　金：黑龙江省自然科学基金面上项目(D201101)

摘　　要：目的研究中国汉族遗传性出血性毛细血管扩张症(hereditary haemorrhagic telangiectasia,HHT)合并肺动脉高压(pulmonary hypertension,PAH)患者的基因突变及其治疗。方法总结中国汉族HHT合并PAH 14例家系其临床和分子遗传学特征,及相应治疗经验。结果总体基因突变率为71.4%,包括8个ACVRL-1突变和2个ENG突变,其中6个为新发突变。大多数患者接受PAH靶向药物治疗。结论 HHT合并PAH中国汉族患者ACVRL-1和ENG突变是遗传易感因素;初步总结了该类患者的临床管理经验,为治疗提供一定临床依据。Objective To study the gene mutation in Chinese patients with hereditary haemorrhagic telangiectasia（ HHT） associated with pulmonary hypertension（ PAH） and the experience of the therapy. Methods The clinical and molecular genetic features of Chinese patients with HHT-associated PAH were investigated and genotype / phenotype correlations in 14 probands was analysed. The experience of the therapy was summarized. Results The overall mutation rate was 71. 4%,including 8 ACVRL-1 mutations and 2 ENG mutations,6 of which were novel. Most patients received targeted therapy for PAH. Conclusion The mutations of ACVRL-1 and ENG are genetic predisposing factors in Chinese Han patients. Our data further address clinical management and provide limited experience in treating the group of disorders.

关 键 词：基因突变 遗传性出血性毛细血管扩张症 肺动脉高压 

分 类 号：R543[医药卫生—心血管疾病]