Abstract
背景遗传性肺动脉高压(PAH)是最常见的由于基因杂合突变BMPR2基因。基于专家的共识,指南建议每年对无症状患者进行超声心动图筛查BMPR2mutation carriers. The main objectives of this study were to evaluate characteristics of asymptomaticBMPR2突变携带者,评估其发生多环芳烃的风险,并在高危人群中早期检测多环芳烃。
方法无症状的BMPR2突变载体在基线进行筛查,每年筛选至少2年(Delphi-2研究,NCT01600898). Annual screening included clinical assessment, electrocardiogram, pulmonary function tests, 6-minute walk distance, cardiopulmonary exercise test, chest X-ray, echocardiography, and NT pro-BNP level. Right heart catheterisation (RHC) was performed based on predefined criteria. An optional RHC at rest and exercise was proposed at baseline.
ResultsFifty-five subjects (26 males, median age 37 years) were included. At baseline, no PAH was suspected based on echocardiography and NT pro-BNP levels. All subjects accepted RHC at inclusion, which identified two mild PAH cases (3·6%), and 12 subjects with exercise pulmonary hypertension (21·8%). At long term follow-up (118·8 patients.year follow-up), three additional cases were diagnosed, yielding a PAH incidence of 2·3%/year (0·99%/year in men and 3·5%/year in women). All PAH cases have remained at low-risk status on oral therapy at last follow-up.
结论无症状的BMPR2突变携带者有发生PAH的显著风险。需要进行国际多中心研究,以确认经过改进的多模式筛查方案和定期随访,能够早期发现多环芳烃。
Footnotes
此手稿最近被接受了出版物European Respiratory Journal. 在我们的制作团队进行文案编辑和排版之前,它是以公认的形式在这里出版的。在这些制作过程完成并且作者已经批准了结果证明之后,文章将转到最新一期的ERJonline. Please open or download the PDF to view this article.
Conflict of interest: Dr. Schweitzer has nothing to disclose.
利益冲突:Montani博士从拜耳,GSK的个人费用,辉瑞的个人费用,来自MSD的个人费用,MSD的个人费用,个人费,个人费,个人费用Boerpinger,Acceleron的非财政支持,来自Chilyte Biosciences France的个人费用,在提交的工作之外的个人费用。
利益冲突:吉尔德博士没有什么要披露的。
Conflict of interest: Dr. JAIS reports grants from Bayer, grants and personal fees from MSD, grants, personal fees and non-financial support from Actelion/Janssen, outside the submitted work.
Conflict of interest: Dr. Laveneziana reports personal fees from NOVARTIS FRANCE, personal fees from CHIESI FRANCE, outside the submitted work.
Conflict of interest: Dr. Lau reports grants and personal fees from Actelion, grants and personal fees from GSK, outside the submitted work.
利益冲突:Bouchachi博士无需披露。
利益冲突:Hascoet博士报告雅培的赠款和个人费用,在提交的工作之外。
利益冲突:冈瑟博士没有什么要披露的。
Conflict of interest: Dr. Godinas has nothing to disclose.
Conflict of interest: Dr. Parent has nothing to disclose.
利益冲突:吉纳伯特博士没有什么要披露的。
利益冲突:BEurnier博士无需披露。
利益冲突:Chemla博士无需披露。
利益冲突:Hervé博士没有什么要披露的。
利益冲突:EYRIES博士没有什么要披露的。
利益冲突:Soubrier博士没有什么要披露的。
利益冲突:SIMONNEAU博士报告拜耳公司的个人费用,MSD公司的个人费用和非财务支持,Acceleron公司的个人费用,在提交的工作之外。
利益冲突:SITBON博士报告Actelion Pharmaceuticals的拨款、个人费用和非财务支持、Acceleron Pharmaceuticals的个人费用、AOP Orphan的个人费用、Bayer HealthCare的拨款和个人费用、MSD的拨款和个人费用、Ferrer的个人费用、Gossamer Bio的个人费用,葛兰素史克的资助,在提交的工作之外。
利益冲突:Savale博士在提交的工作之外报告Actelion的个人费用和非财务支持、GSK的赠款、个人费用和非财务支持、MSD的非财务支持、拜耳的个人费用和非财务支持。
利益冲突:Humbert博士报告了葛兰素史克的拨款、个人费用和非财务支持,阿斯利康的个人费用,诺华的个人费用,罗氏的个人费用,赛诺菲的个人费用,Teva的个人费用,Acceleron的拨款和个人费用,Actelion的拨款和个人费用,拜耳的补助金和个人费用,默克的个人费用,在提交的工作之外。
- 收到November 18, 2020.
- 认可的December 17, 2020.
- 版权所有©ERS 2020