Article
Alpha-1-antitrypsin deficiency in a large sibship.
Respiration; international review of thoracic diseases - 1 Jan 1990
Apprill M, North M L, Mirhom R, Weitzenblum E
Abstract excerpt
We studied alpha 1-antitrypsin deficiency in a large family of 10 siblings: 3 subjects had PiZZ phenotype, but only 1 had emphysema; 2 subjects had no respiratory complaint. The patient with emphysema was a heavy smoker. According to the literature, this case suggests that, in PiZZ phenotype, emphysema appears earlier and is more severe if the patients smoke.
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