RT期刊文章SR电子T1功能评估和表型异质性SFTPA1和SFTPA2mutations in interstitial lung diseases and lung cancer JF European Respiratory Journal JO Eur Respir J FD 188bet官网地址European Respiratory Society SP 2002806 DO 10.1183/13993003.02806-2020 VO 56 IS 6 A1 Legendre, Marie A1 Butt, Afifaa A1 Borie, Raphaël A1 Debray, Marie-PierreA1 Bouvry, Diane A1 Filhol-Blin, Emilie A1 Desroziers, Tifenn A1 Nau, Valérie A1 Copin, Bruno A1 Dastot-Le Moal, Florence A1 Héry, Mélanie A1 Duquesnoy, Philippe A1 Allou, Nathalie A1 Bergeron, Anne A1 Bermudez, Julien A1Cazes, Aurélie A1 Chene, Anne-Laure A1 Cottin, Vincent A1 Crestani, Bruno A1 Dalphin, Jean-Charles A1 Dombret, Christine A1 Doray, Bérénice A1 Dupin, Clairelyne A1 Giraud, Violaine A1 Gondouin, Anne A1 Gouya, Laurent A1 Israël-Biet, Dominique A1 Kannengiesser, Caroline A1 Le Borgne, Aurélie A1 Leroy, Sylvie A1 Longchampt, Elisabeth A1 Lorillon, Gwenaël A1 Nunes, Hilario A1 Picard, Clément A1 Reynaud-Gaubert, Martine A1 Traclet, Julie A1 de Vuyst, Paul A1 Coulomb L'Hermine，Aurore A1 Clement，Annick A1 AmselEM，Serge A1 Nathan，Nadia Yr 2020 Ul //www.qdcxjkg.com/content/56/6/6/2002806.ABSTRACT ABSTRACT ABSTRACT简介间质肺疾病（ILDS）可能是由SFTPA1和SFTPA1和SFTPA2基因突变引起的编码表面活性剂蛋白（SP）复合物SP-A。迄今为止，在全球范围内仅报道了11个SFTPA1或SFTPA2突变，其中有5个已在功能上进行了评估。在ILD分子诊断的框架中，我们确定了14例致病性SFTPA1或SFTPA2突变的独立患者。本研究旨在在功能上评估所鉴定的11种不同突变，并准确地描述患者及其受影响的亲属的疾病表型。方法通过研究了11个SFTPA1或SFTPA2突变的后果，通过研究，通过研究研究和分泌的生产和分泌。通过分析肺组织样品中的SP-A表达，相应的突变蛋白和离体。 The associated disease phenotypes were documented.Results For the 11 identified mutations, protein production was preserved but secretion was abolished. The expression pattern of lung SP-A available in six patients was altered and the family history reported ILD and/or lung adenocarcinoma in 13 out of 14 families (93%). Among the 28 SFTPA1 or SFTPA2 mutation carriers, the mean age at ILD onset was 45 years (range 0.6–65 years) and 48% underwent lung transplantation (mean age 51 years). Seven carriers were asymptomatic.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