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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 hypertension is closely related to heredity. In recent years, the demand for genetic testing and counseling of pulmonary hypertension has rapidly increased with the gradual clarification of pathogenic genes. Genetic testing can clarify the etiology of the patient and assist in the diagnosis, treatment and risk stratification of the disease. By identifying the families of patients with pathogenic mutations, they can be given risk warnings and early warnings without any clinical symptoms and to guide family fertility . Genetic testing is gradually integrated into clinical decision-making and practice. The article will explain the progress and application of genetic testing and counseling of pulmonary hypertension from aspects of clinical significance, target population, implementation methods and interpretation of results.