TY - T1的患病率和特征的< em >叔< / em >和< em > < / em >, TERC怀疑基因突变肺纤维化JF -欧洲呼吸杂志》乔和J SP - 1721 LP - 1731欧元——10.1183/13993003.02115 -2015六世- 48 - 6盟Borie拉斐尔盟——Tabeze Laure AU - Thabut Gabriel AU - Nunes,希拉里奥盟——Cottin文森特盟——Marchand-Adam Sylvain AU - Prevot,格雷戈勒AU -塔子,Abdellatif盟——Cadranel雅克AU - Mal Herve盟——Wemeau-StervinouLidwine AU - Bergeron Lafaurie, Anne AU - israelbiet, Dominique AU - Picard, Clement AU - Reynaud Gaubert, Martine AU - Jouneau, Stephane AU - Naccache, Jean-Marc AU - Mankikian, Julie AU - Ménard, Christelle AU - Cordier, Jean-François AU - Valeyre, Dominique AU - Reocreux, Marion AU - Grandchamp, Bernard AU - Revy, Patrick AU - Kannengiesser, Caroline AU - Crestani，Bruno Y1 - 2016/12/01 UR - //www.qdcxjkg.com/content/48/6/1721.abstract N2 -端粒酶逆转录酶(TERT)或端粒酶RNA (TERC)基因突变是肺纤维化的主要单基因原因。建议对家族性肺纤维化患者进行TERT/TERC基因测序。很少有人知道这种突变的可能预测因素及其对预后的影响。我们回顾性分析了2007-2014年间肺纤维化患者的所有遗传诊断。我们评估了TERT/TERC疾病相关变异(DAV)的患病率、与DAV相关的因素以及DAV对生存的影响。237例肺纤维化患者(153例为家族性肺纤维化，84例为端粒综合征特征，无家族性肺纤维化)检测TERT/TERC DAV。40例患者(16.8%)诊断为DAV，其中5例为非特发性间质性肺炎。TERT/TERC DAV的患病率在家族性肺纤维化或只有端粒综合征特征的患者之间没有显著差异(18.2%对16.4%)。 Young age, red blood cell macrocytosis, and low platelet count were associated with the presence of DAV; the probability of DAV was increased for patients 40–60 years. Transplant-free survival was lower with than without TERT/TERC DAV (4.2 versus 7.2 years; p=0.046).TERT/TERC DAV were associated with specific clinical and biological features and reduced transplant-free survival.Pulmonary fibrosis patients with TERT/TERC disease-associated variants show reduced transplant-free survival http://ow.ly/EmYs304atGl ER -