Rare genotype del2,3/2184insA in a cystic fibrosis patient.
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.
Minarowska
Alina
A
3rd Department of Children's Diseases, Medical University of Białystok, Białystok, Poland. minar@mp.pl
Kowalczuk
Oksana
O
Kaczmarski
Maciej
M
Kowalczuk
Danuta
D
Minarowski
Łukasz
Ł
Chyczewski
Lech
L
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
D019005:Cystic Fibrosis Transmembrane Conductance Regulator