RT期刊论文SR电子T1表型和携带PAH患者的预后TBX4突变JF欧洲呼吸杂志JO欧洲呼吸ĴFD欧洲呼吸协会SP 1902340 DO 10.1183 / 13993003.02188bet官网地址340-2019 A1Thoré，皮尔A1 Girerd，巴巴拉A1 JAIS，泽维尔A1 Savale，劳伦A1 Ghigna玛利亚-罗莎A1 Eyries，梅拉妮A1利维Marilyne A1 Ovaert，卡罗琳A1 Servettaz，天使爱美丽A1 Guillaumot，安妮A1海豚，克莱尔A1 Chabanne，CELINE A1 Boiffard，灵光A1 COTTIN，文森特A1佩罗斯，弗雷德里克A1 Simonneau，杰拉尔德A1希特博恩，奥利维尔A1 Soubrier，弗洛朗A1阀盖，达米安A1雷米 - 花园，马丁A1 Chaouat，阿里A1亨伯特，马克A1 Montani酒店，大卫YR 2020 UL //www.qdcxjkg.com/content/early/2020/02/06/13993003.02340-2019.abstract AB介绍TBX4突变的原因小髌骨综合征（SPS）和/或肺动脉高压（PAH）。与TBX4突变相关的特征和PAH的结果在很大程度上是unknown.Methods我们报告的临床，功能，影像学，组织学和血流动力学特征和携带来自法国的PH Network.Results 20名患者一个TBX4突变遗传性肺动脉高压患者的转归进行鉴定17个家庭。它们在29（0-76）岁和阴至（3.大多数患者在NYHA功能III或IV级（70％）与严重的血流动力学障碍雄性比诊断的特点是，中位年龄13.6 [6.2-41.8]木材单位的中值肺血管阻力）。SPS的骨骼迹象存在于80％的病例。一半的患者具有温和限制或阻塞性限制和一氧化碳弥散量在所有患者中降低。高分辨率计算机断层扫描显示支气管异常，周围支气管囊肿，镶嵌分布和纵隔淋巴结病。 PAH therapy was associated with significant clinical improvement. At follow-up (median 76 months), two patients died and two underwent lung transplantation. One-, three- and five-year event-free survival rates were 100%, 94% and 83%, respectively. Histologic examination of explanted lungs revealed alveolar growth abnormalities, major pulmonary vascular remodelling similar to that observed in idiopathic PAH, and accumulation of cholesterol crystals within the lung parenchyma.Conclusion PAH due to TBX4 mutations may occur with or without skeletal abnormalities across a broad age range from birth to late adulthood. PAH is usually severe and associated with bronchial and parenchymal abnormalities.FootnotesThis manuscript has recently been accepted for publication in the European Respiratory Journal. It is published here in its accepted form prior to copyediting and typesetting by our production team. After these production processes are complete and the authors have approved the resulting proofs, the article will move to the latest issue of the ERJ online. Please open or download the PDF to view this article.Conflict of interest: Dr Thoré has nothing to disclose.Conflict of interest: Dr Girerd has nothing to disclose.Conflict of interest: Dr Jaïs reports grants and personal fees from Actelion, grants and personal fees from MSD, grants from Bayer, outside the submitted work.Conflict of interest: Dr SAVALE reports grants, personal fees and non-financial support from Actelion, grants and personal fees from MSD, non-financial support from GSK, outside the submitted work.Conflict of interest: Dr Ghigna has nothing to disclose.Conflict of interest: Dr EYRIES has nothing to disclose.Conflict of interest: Dr Levy has nothing to disclose.Conflict of interest: Dr Ovaert has nothing to disclose.Conflict of interest: Dr Servettaz has nothing to disclose.Conflict of interest: Dr GUILLAUMOT has nothing to disclose.Conflict of interest: Dr Dauphin has nothing to disclose.Conflict of interest: Dr Chabanne has nothing to disclose.Conflict of interest: Dr Boiffard has nothing to disclose.Conflict of interest: Dr Cottin reports personal fees and non-financial support from Actelion, grants, personal fees and non-financial support from Boehringer Ingelheim, personal fees from Bayer / MSD, personal fees from Gilead, personal fees from Novartis, personal fees and non-financial support from Roche SAS, personal fees from Sanofi, personal fees from Promedior, personal fees from Celgene, personal fees from Galapagos, personal fees from Galecto, outside the submitted work.Conflict of interest: Dr Perros has nothing to disclose.Conflict of interest: Dr Simonneau reports grants, personal fees and non-financial support from Actelion, grants, personal fees and non-financial support from Bayer, grants, personal fees and non-financial support from GSK, grants, personal fees and non-financial support from Merck, outside the submitted work.Conflict of interest: Dr Sitbon reports grants, personal fees and non-financial support from Actelion Pharmaceuticals, personal fees from Acceleron Pharmaceuticals, grant, personal fees and non-financial support from Bayer HealthCare, personal fees from Ferrer, grants from GlaxoSmithKline, personal fees from Gossamer Bio, grants, personal fees and non-financial support from MSD, personal fees from United Therapeutics, outside the submitted work.Conflict of interest: Dr Soubrier has nothing to disclose.Conflict of interest: Dr BONNET reports personal fees from Actelion Pharmaceuticals, personal fees from Eli Lilly, personal fees from Novartis, outside the submitted work.Conflict of interest: Dr Remy Jardin has nothing to disclose.Conflict of interest: Dr Chaouat has nothing to disclose.Conflict of interest: Dr Humbert reports personal fees from Acceleron, personal fees from Actelion, grants and personal fees from Bayer, grants and personal fees from GSK, personal fees from MSD, personal fees from United Therapeutics, outside the submitted work.Conflict of interest: Dr MONTANI reports grants and personal fees from Actelion, grants and personal fees from Bayer, personal fees from GSK, personal fees from Pfizer, personal fees from MSD, personal fees from Chiesi, outside the submitted work.