title: [The variability of clinical presentation of chronic obstructive pulmonary disease in patients with hereditary alpha-1 antitrypsin deficiency].
abstract: Four patients with alpha-1 antitrypsin (alpha-1 AT) deficiency are presented: one woman with severe (phenotype PiZ) and 3 men with moderate (phenotype PiMZ) deficiency of alpha-1 AT. The variability of clinical presentation of hereditary emphysema is described. In all patients tobacco smoking history, spirometric and 6-minutes walking tests as well as HRCT of the lung were performed and compared. The influence of smoking on the functional status is underlined.
authors: Oddziału Intensywnej Terapii Pneumonologiczno--Kardiologicznej, Warszawa.
authors: Paweł
authors: P
authors: Kuca
authors: Dariusz
authors: D
authors: Kamiński
authors: Edward
authors: E
authors: Campbell
authors: Jacek
authors: J
authors: Kołakowski
authors: Anna
authors: A
authors: Goljan-Geremek
authors: Elzbieta
authors: E
authors: Puścińska
authors: Przemysław
authors: P
authors: Bieleń
authors: Adam
authors: A
authors: Nowiński
authors: Emil
authors: E
authors: Wojda
authors: Iwona
authors: I
authors: Hawryłkiewicz
authors: Paweł
authors: P
authors: Sliwiński
authors: Dorota
authors: D
authors: Górecka
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D029424:Pulmonary Disease, Chronic Obstructive / Q000175:diagnosis* / Q000235:genetics*; D011656:Pulmonary Emphysema / Q000235:genetics*; D012907:Smoking / Q000009:adverse effects; D013147:Spirometry; D016138:Walking; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency / Q000235:genetics*
chemical_list: D000515:alpha 1-Antitrypsin