title: Rare genotype del2,3/2184insA in a cystic fibrosis patient.
abstract: In this paper we present an interesting case of cystic fibrosis patient with rare genotype de12,3/2184insA and atypical clinical image including: mild symptoms in an early phase of disease, quick progress of lung disease, complicated with pneumothorax after Bordetella pertussis infection and very good response to systemic and inhaled steroid therapy.
authors: 3rd Department of Children's Diseases, Medical University of Białystok, Białystok, Poland. minar@mp.pl
authors: Alina
authors: A
authors: Minarowska
authors: Oksana
authors: O
authors: Kowalczuk
authors: Maciej
authors: M
authors: Kaczmarski
authors: Danuta
authors: D
authors: Kowalczuk
authors: Łukasz
authors: Ł
authors: Minarowski
authors: Lech
authors: L
authors: Chyczewski
mesh_terms: D000328:Adult; D001483:Base Sequence; D001885:Bordetella Infections / Q000150:complications; D003550:Cystic Fibrosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008171:Lung Diseases / Q000209:etiology; D008969:Molecular Sequence Data; D009154:Mutation; D011030:Pneumothorax / Q000209:etiology
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator