Faculté de Médecine, Université Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre, France.
AP-HP, Service de Pneumologie, Centre de Référence de l'Hypertension Pulmonaire Sévère, DHU Thorax Innovation, Hôpital de Bicêtre, Le Kremlin-Bicêtre, France.
Eur Respir Rev. 2018 Apr 13;27(148). doi: 10.1183/16000617.0004-2018. Print 2018 Jun 30.
Pulmonary hypertension (PH) and pulmonary arterial hypertension (PAH) include different cardiopulmonary disorders in which the interaction of multiple genes with environmental and behavioural factors modulates the onset and the progression of these severe conditions. Although the development of therapeutic agents that modulate abnormalities in three major pathobiological pathways for PAH has revolutionised our approach to the treatment of PAH, the long-term survival rate remains unsatisfactory. Accumulating evidence has underlined that clinical outcomes and responses to therapy in PAH are modified by multiple factors, including genetic variations, which will be different for each individual. Since precision medicine, also known as stratified medicine or personalised medicine, aims to better target intervention to the individual while maximising benefit and minimising harm, it has significant potential advantages. This article aims to assemble and discuss the different initiatives that are currently underway in the PH/PAH fields together with the opportunities and prospects for their use in the near future.
肺动脉高压 (PH) 和肺动脉高压 (PAH) 包括不同的心肺疾病，其中多个基因与环境和行为因素的相互作用调节这些严重疾病的发生和进展。尽管已经开发出了调节 PAH 三种主要病理生物学途径异常的治疗药物，改变了我们治疗 PAH 的方法，但长期生存率仍然不尽如人意。越来越多的证据强调，PAH 的临床结果和对治疗的反应受到多种因素的影响，包括遗传变异，而每个个体的遗传变异都是不同的。由于精准医学（也称为分层医学或个体化医学）旨在针对个体更好地靶向干预，同时最大限度地提高效益和最小化危害，因此它具有显著的潜在优势。本文旨在汇集和讨论 PH/PAH 领域目前正在进行的不同计划，并探讨其在不久的将来的应用机会和前景。
