Bilateral spontaneous pneumothorax in a newborn with N1303K mutation of cystic fibrosis (CFTR) gene.
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.
Ataseven
Fevzi
F
Department of Pediatrics, Faculty of Medicine, Gaziosmanpaşa University, Tokat, Turkey.
Ozer
Samet
S
Yılmaz
Resul
R
Senaylı
Atilla
A
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
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator