RT期刊论文SR电子T1表型并携带一个肺动脉高压患者的预后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 VO 55 5 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，达米恩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/55/5/1902340.abstract AB介绍TBX4突变导致小髌骨综合征（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我们报告临床，功能，影像学，组织学和血流动力学特性和遗传PAH患者从法国肺动脉高压携带TBX4突变（PH）network.Results 20的结果患者在17个科进行鉴定。They were characterised by a median age at diagnosis of 29 years (0–76 years) and a female to male ratio of three. Most of the patients (70%) were in New York Heart Association (NYHA) functional class III or IV with a severe haemodynamic impairment (median pulmonary vascular resistance (PVR) of 13.6 (6.2–41.8) Wood units). Skeletal signs of SPS were present in 80% of cases. Half of the patients had mild restrictive or obstructive limitation and diffusing capacity of the lung for carbon monoxide (DLCO) was decreased in all patients. High-resolution computed tomography (HRCT) showed bronchial abnormalities, peri-bronchial cysts, mosaic distribution and mediastinal lymphadenopathies. PAH therapy was associated with significant clinical improvement. At follow-up (median 76 months), two patients had died and two had undergone lung transplantation. One-year, three-year 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 pulmonary arterial hypertension (IPAH) 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.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 parenchymal abnormalities, alveolar and pulmonary vascular remodelling, and low DLCO. http://bit.ly/38jM37U