Ataseven Fevzi, Ozer Samet, Yılmaz Resul, Senaylı Atilla
Department of Pediatrics, Faculty of Medicine, Gaziosmanpaşa University, Tokat, Turkey.
Tuberk Toraks. 2010;58(2):181-3.
Cystic fibrosis is the most frequent and lethal inherited disease, affecting populations of European and Caucasian origin. Pneumothorax is life threatening pulmonary complication of cystic fibrosis. Bilateral pneumothorax is rarely seen and is a predictor of poor prognosis. We report a newborn presenting with bilateral pneumothorax whose diagnosis was cystic fibrosis with N1303K mutation on CFTR gene.
囊性纤维化是最常见且致命的遗传性疾病，影响欧洲和高加索裔人群。气胸是囊性纤维化危及生命的肺部并发症。双侧气胸罕见，是预后不良的一个指标。我们报告一例患有双侧气胸的新生儿，其诊断为囊性纤维化，CFTR基因存在N1303K突变。
