[Alpha 1-antitrypsin deficiency and emphysema. Replacement therapy?].
We present three patients with homozygous alpha-1-antitrypsin deficiency and pulmonary emphysema. They demonstrate the typical patterns of this syndrome: panlobular emphysema, early age of onset, serum alpha-1-antitrypsin below 35% of normal and phenotype PiZZ. We discuss epidemiology, pathogenesis and clinical manifestations, and review the experience concerning replacement therapy using alpha-1-antitrypsin derived from human plasma. We strongly point out the importance of stopping cigarette smoking in such patients.
Johansen
S
S
Gulsvik
A
A
D000293:Adolescent; D000328:Adult; D000368:Aged; D006801:Humans; D008875:Middle Aged; D010641:Phenotype; D011656:Pulmonary Emphysema / Q000188:drug therapy / Q000235:genetics* / Q000517:prevention & control; D012907:Smoking / Q000009:adverse effects; D000515:alpha 1-Antitrypsin / Q000008:administration & dosage / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
D000515:alpha 1-Antitrypsin
Alfa-1-antitrypsinmangel og emfysem. Substitusjonsbehandling?