% 0期刊文章% Thore,皮埃尔% Girerd,芭芭拉%洁,泽维尔% Savale, Laurent % Ghigna, maria rosa %巢窝,梅勒妮%征税,Marilyne % Ovaert,卡罗琳% Servettaz,天使爱美丽% Guillaumot,安妮%多芬,克莱尔% Chabanne,席琳% Boiffard,伊曼纽尔% Cottin,文森特% Perros,弗雷德里克·% Simonneau,杰拉尔德% Sitbon,奥利弗% Soubrier,弗洛伦特·%一个帽子,Damien % Remy-Jardin,马蒂娜% Chaouat, Ari %亨伯特,Marc Montani %,a型肺动脉高压患者的David %T表型及预后TBX4TBX4突变引起小髌骨综合征(SPS)和/或肺动脉高压(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。在随访中(平均76个月)，2例患者死亡，2例接受肺移植。 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 %U //www.qdcxjkg.com/content/erj/55/5/1902340.full.pdf