TY - JOUR T1 - 表型和肺动脉高压的患者的结果携带 TBX4 突变JF - 欧洲呼吸杂志JO - 欧洲呼吸j执行 - 10.1183 / 13993003.02340-2019 VL - 55 - 5 SP - 1902340AU - Thoré，皮埃尔AU - Girerd，芭芭拉AU - JAIS，泽维尔AU - Savale，洛朗AU - Ghigna，玛丽亚·罗莎AU - Eyries，梅拉妮AU - 利维，Marilyne AU - Ovaert，卡罗琳AU - Servettaz，天使爱美丽AU - Guillaumot安妮AU - 多芬，克莱尔AU - Chabanne，席琳AU - Boiffard，灵光AU - COTTIN，文森特AU - 佩罗斯，弗雷德里克AU - Simonneau，杰拉尔德AU - 希特博恩，奥利维尔AU - Soubrier，弗洛朗AU - 博内，达盟 - 雷米-Jardin，马丁AU - Chaouat，阿里AU - 亨伯特，马克AU - Montani酒店，大卫Y1 - 2020年5月1日UR - //www.qdcxjkg.com/content/55/5/1902340.abstract N2 - 简介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 ER -