@文章{Borie1721，作者={博里，拉斐尔和塔{\'e}泽，Laure和Thabut, Gabriel和Nunes, Hilario和Cottin, Vincent和Marchand-Adam, Sylvain和Prevot, Gr{\'e}goire和Tazi, Abdellatif和Cadranel, Jacques和Mal, Herve和Wemeau-Stervinou, Lidwine和Bergeron Lafaurie, Anne和以色列- biet, Dominique和Picard, Clement和Reynaud Gaubert, Martine和Jouneau, Stephane和Naccache, Jean-Marc和Mankikian, Julie和M{\'e}nard, Christelle和Cordier，Jean-Fran{\c}ois和Valeyre, Dominique和Reocreux, Marion和Grandchamp, Bernard和Revy, Patrick和Kannengiesser, Caroline和Crestani, Bruno}，标题= {TERT和TERC突变在疑似遗传性肺纤维化中的患病率和特征}，卷={48}，数={6}，页={1721- 1731}，年份= {2016}，doi ={10.1183/13993003.02115-2015}，出版商={欧洲呼吸学会}，188bet官网地址端粒酶逆转录酶(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年至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(16.8%)患者诊断为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仅具有端粒综合征特征的患者之间无显著差异(18.2% vs 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{\textendash}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}, issn = {0903-1936}, URL = {//www.qdcxjkg.com/content/48/6/1721}, eprint = {//www.qdcxjkg.com/content/48/6/1721.full.pdf}, journal = {European Respiratory Journal} }