title: Bilateral spontaneous pneumothorax in a newborn with N1303K mutation of cystic fibrosis (CFTR) gene.
abstract: 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.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Gaziosmanpaşa University, Tokat, Turkey.
authors.forename: Fevzi
authors.initials: F
authors.lastname: Ataseven
authors.forename: Samet
authors.initials: S
authors.lastname: Ozer
authors.forename: Resul
authors.initials: R
authors.lastname: Yılmaz
authors.forename: Atilla
authors.initials: A
authors.lastname: Senaylı
mesh_terms: D003550:Cystic Fibrosis / Q000150:complications* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D011030:Pneumothorax / Q000150:complications* / Q000000981:diagnostic imaging / Q000601:surgery; D011859:Radiography; D013907:Thoracostomy; D016896:Treatment Outcome
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator