TY - T1的表型和肺动脉高血压病人携带的结果< em > TBX4 < / em >突变JF -欧洲呼吸杂志》乔和J - 10.1183/13993003.02340 -2019欧元六世- 55 - 5 SP - 1902340 AU Thore皮埃尔AU - Girerd,芭芭拉盟——洁,泽维尔盟——Savale Laurent盟——Ghigna maria rosa盟——巢窝,梅勒妮AU -利维,Marilyne盟——Ovaert卡罗琳AU - Servettaz,天使爱美丽AU - Guillaumot,安妮盟——多芬,克莱尔盟——Chabanne席琳盟——BoiffardEmmanuel盟——Cottin文森特盟——Perros Frederic AU - Simonneau杰拉尔德盟——Sitbon Olivier AU - Soubrier,弗洛伦特·盟——帽子,Damien盟——Remy-Jardin马蒂娜盟——Chaouat Ari盟——亨伯特,马克•AU - Montani大卫Y1 - 2020/05/01 UR - //www.qdcxjkg.com/content/55/5/1902340.abstract N2 -介绍TBX4突变导致小髌骨综合征(SPS)和/或肺动脉高血压(PAH)。与TBX4突变相关的多环芳烃的特征和结果大部分尚不清楚。方法我们报告了法国肺动脉高压(PH)网络中携带TBX4突变的遗传性肺动脉高压患者的临床、功能、影像学、组织学和血流动力学特征和预后。结果20例患者来自17个家庭。他们诊断时的平均年龄为29岁(0-76岁)，男女比例为3。大多数患者(70%)属于纽约心脏协会(NYHA)功能三级或四级患者，有严重的血流动力学损伤(肺中位血管阻力(PVR)为13.6(6.2-41.8)木单位)。80%的病例有SPS的骨骼征象。半数患者出现轻度限制性或梗阻性限制，所有患者的一氧化碳肺弥散能力下降。高分辨率计算机断层扫描(HRCT)显示支气管异常、支气管周围囊肿、马赛克分布和纵隔淋巴结病变。PAH治疗与显著的临床改善相关。 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 -