肺动脉高压遗传检测与咨询  

Genetic testing and consulting of pulmonary arterial hypertension

作　　者：王晓建 荆志成 

机构地区：[1]中国医学科学院阜外医院,北京协和医学院,国家心血管病中心,心血管疾病国家重点实验室,血栓性疾病诊疗中心,北京100037

出　　处：《中国实用内科杂志》2017年第5期373-375,379,共4页Chinese Journal of Practical Internal Medicine

基　　金：国家自然科学基金(81320108005,81630003,81670052)

摘　　要：肺动脉高压与遗传密切相关。近年来,随着致病基因逐渐明晰,肺动脉高压的遗传检测和咨询的需求迅速增长。遗传检测可以明确患者病因,协助疾病的诊断、治疗和危险分层;通过识别携带致病性基因突变的患者家属,可以在无任何临床症状前对其进行风险提示和早期预警,并指导家庭生育。遗传检测正在逐步融入临床决策和实践。文章将从临床意义、目标人群、实施方法和结果解读等方面阐述肺动脉高压遗传检测和咨询的进展及应用。Pulmonary arterial hypertension（PAl-I） is closely related to heredity. In recent years, with the disease-causing genes gradually becoming dear, the damand for pAIl genetic testing and consulting has rapidly grown. Through genetic testing, we identify the etiolog~ helping to diagnose, treat, and stratify the disease; by identifying family members of patients with disease-causing mutations, we can provide risk warnings and early warnings without any clinical symptoms, and guide fertility. Genetic testing is gradually integrated into clinical decision-making and practice. This review described the recent progress and application of genetic testing and consulting of PAH in such aspects as clinical significance, target population, implementation methods and interpretation of results.

关 键 词：肺动脉高压 遗传检测 致病基因 

分 类 号：R543.2[医药卫生—心血管疾病]