@article {Legendre2002806作者={勒让德,玛丽和屁股,Afifaa Borie,拉法{\ " e} l和r,显示和Bouvry,黛安娜和Filhol-Blin,艾米莉和Desroziers Tifenn nautica, Val {\ ' e} rie Copin,布鲁诺和Dastot-Le Moal,佛罗伦萨和H {\ ' M e}, {\ ' e}拉妮Duquesnoy,菲利普和Allou,娜塔莉和Bergeron,安妮和贝穆德斯,朱利安和caz与{\ ' e}撒谎和Chene Anne-Laure Cottin,文森特,伽马安基丁酸和布鲁诺和Dalphin租用Dombret,克里斯汀和Doray B {\ ' r e} {\ ' e}好,杜宾,Clairelyne Giraud, Violaine Gondouin,安妮和Gouya,劳伦特和伊斯拉{\ " e} l-Biet,多米尼克和Kannengiesser,卡洛琳和Le Borgne,与{\ ' e}撒谎和勒罗伊,西尔维Longchampt,伊丽莎白和Lorillon Gwena {\ " e} l和Nunes说,希拉里奥和皮卡,Cl {\ ' e}而且Reynaud-Gaubert,马丁尼和Traclet,朱莉和de Vuyst保罗和库仑l {\ textquoteright} Hermine Aurore和克莱门特,Annick Amselem,谢尔盖和内森,Nadia}, title ={功能评估和表型异质性SFTPA1和SFTPA2突变在间质性肺疾病和肺癌},体积= {56}= {6},elocation-id = {2002806} = {2020}, doi ={10.1183/13993003.02806 -2020},出版商={欧洲呼吸学会},文摘={介绍间质性肺疾病(ILDs)可以由SFTPA1和SFTPA2基因突变引起的,而编码复杂SP-A表面活性剂蛋白(SP)。188bet官网地址只有11 SFTPA1或SFTPA2突变到目前为止报道在世界范围内,其中5例已经功能评估。ILD框架的分子诊断,我们确定了14个独立致病SFTPA1或SFTPA2突变患者。本研究旨在功能评估确定的11种不同的突变,并准确描述疾病表型影响的病人和他们的亲属。方法11 SFTPA1的后果或SFTPA2体外突变分析,通过研究相应的突变蛋白的生产和分泌和间接体内疗法,通过分析SP-A表达式在肺组织样本。相关的疾病表型被记录。结果11确定突变,蛋白质生产保存但分泌被废除。肺SP-A可用六个病人的表达模式改变,家族病史报告ILD和/或肺腺癌在13的14家庭(93 \ %)。在28日SFTPA1或SFTPA2突变携带者,ILD发病的平均年龄是45岁(范围0.6 {\ textendash} 65年)和48 \ %接受肺移植(平均年龄51岁)。七个航空公司是无症状的。Discussion This study, which expands the molecular and clinical spectrum of SP-A disorders, shows that pathogenic SFTPA1 or SFTPA2 mutations share similar consequences for SP-A secretion in cell models and in lung tissue immunostaining, whereas they are associated with a highly variable phenotypic expression of disease, ranging from severe forms requiring lung transplantation to incomplete penetrance.SFTPA1 and SFTPA2 mutations lead to similar alterations in SP-A secretion and lung tissue expression. They are associated with a highly variable phenotypic expression ranging from incomplete penetrance to severe interstitial lung diseases and lung cancer. https://bit.ly/30SrEVb}, issn = {0903-1936}, URL = {//www.qdcxjkg.com/content/56/6/2002806}, eprint = {//www.qdcxjkg.com/content/56/6/2002806.full.pdf}, journal = {European Respiratory Journal} }