Pulmonary function associated with the Mmalton deficient variant of alpha 1-antitrypsin.
We have studied 78 members of a large family in which the Mmalton deficiency allele of alpha 1-antitrypsin (alpha 1AT) is present. Four patients of PI type MmaltonZ (alpha 1AT concentration, 16.4% of normal) had severe emphysema and marked depression in all flow and gas exchange parameters, significantly different from other members of the same family who were normal or had intermediate concentrations of alpha 1AT. Fourteen subjects with PI type MMmalton (alpha 1AT concentration, 63.3% of normal) were compared with 46 PI MM relatives (alpha 1AT, 103.8% of normal) and 14 relatives of PI type MZ (alpha 1AT concentration, 66.5% of normal). Spirometry, flow-volume loops, plethysmography, gas exchange at rest and exercise, and xenon 133 regional lung function were similar in those partially deficient when compared with the normal subjects. There was a trend for impairment of tests of lung function between smoking partially deficient (PI MZ, PI Mmalton) and normal (PI MM) relatives.
D000328:Adult; D000483:Alleles; D001784:Blood Gas Analysis; D001986:Bronchial Spasm / Q000188:drug therapy; D001993:Bronchodilator Agents / Q000627:therapeutic use; D005260:Female; D014644:Genetic Variation; D006801:Humans; D008168:Lung / Q000502:physiology*; D008173:Lung Diseases, Obstructive / Q000235:genetics* / Q000503:physiopathology; D008176:Lung Volume Measurements; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D011653:Pulmonary Diffusing Capacity; D012119:Respiration; D012907:Smoking; D014018:Tissue Distribution; D000515:alpha 1-Antitrypsin / Q000235:genetics*
D001993:Bronchodilator Agents; D000515:alpha 1-Antitrypsin