[The variability of clinical presentation of chronic obstructive pulmonary disease in patients with hereditary alpha-1 antitrypsin deficiency].
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.
Kuca
Paweł
P
Oddziału Intensywnej Terapii Pneumonologiczno--Kardiologicznej, Warszawa.
Kamiński
Dariusz
D
Campbell
Edward
E
Kołakowski
Jacek
J
Goljan-Geremek
Anna
A
Puścińska
Elzbieta
E
Bieleń
Przemysław
P
Nowiński
Adam
A
Wojda
Emil
E
Hawryłkiewicz
Iwona
I
Sliwiński
Paweł
P
Górecka
Dorota
D
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*
D000515:alpha 1-Antitrypsin