@article{雷神{\ ' e} 1902340,作者={雷神{\ ' e},皮埃尔和Girerd,芭芭拉和Ja{\ " \我}年代,泽维尔和Savale,劳伦和Ghigna, maria rosa巢窝,M {\ ' e}拉妮和征税,Marilyne Ovaert,卡洛琳和Servettaz,是{\ ' e}撒谎和Guillaumot,安妮和多芬,克莱尔和Chabanne C {\ ' e}行和Boiffard Emmanuel Cottin,文森特,Perros Fr {} \ ' e d {\ ' e}里克和Simonneau G {\ ' e}醛和Sitbon,奥利弗和Soubrier,小马和阀盖,Damien Remy-Jardin,马丁尼和Chaouat,阿里和亨伯特,马克和Montani,大卫•}title ={表型和结果的肺动脉高血压患者携带TBX4突变},体积= {55}= {5},elocation-id = {1902340} = {2020}, doi ={10.1183/13993003.02340 -2019},出版商={欧洲呼吸学会},文摘={介绍TBX4突变导致小髌骨综合征(SPS)和/或肺动脉高血压(PAH)。188bet官网地址与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。他们的特征是诊断时的中位年龄为29岁(0{textendash}76岁)，男女比例为3。大多数患者(70\%)属于纽约心脏协会(New York Heart Association, NYHA)功能III或IV级，有严重的血流动力学损伤(中位肺血管阻力(PVR)为13.6 (6.2{\textendash}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}, issn = {0903-1936}, URL = {//www.qdcxjkg.com/content/55/5/1902340}, eprint = {//www.qdcxjkg.com/content/55/5/1902340.full.pdf}, journal = {European Respiratory Journal} }