title: Alpha-1-antitrypsin deficiency and chest disease a clinical and physiological study.
abstract: Four families with alpha-1-antitrypsin deficiency have been identified. Of 7 homozygous subjects 5 smoked and had chest disease while the 2 non-smokers were unaffected. Productive cough was a feature in 4 of the 5 affected homozygotes and symptoms commenced earlier than is usual with chronic bronchitis and emphysema. Of 11 heterozygous subjects only 5 who smoked had symptomatic or laboratory evidence of obstructive airways disease, in each case less marked than that of their homozygous smoking relatives. Severely affected subjects were underweight, the degree of weight loss being related to the measured severity of airways disease. A survey of emphsematous patients screened for alpha-1-antitrypsin deficiency is described. The natural course and significance of this enzyme deficiency are examined with reference to previous literature.
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D005838:Genotype; D006801:Humans; D008173:Lung Diseases, Obstructive / Q000175:diagnosis / Q000209:etiology*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D008875:Middle Aged; D012129:Respiratory Function Tests; D012907:Smoking / Q000150:complications*; D000515:alpha 1-Antitrypsin / Q000097:blood; D019896:alpha 1-Antitrypsin Deficiency
chemical_list: D000515:alpha 1-Antitrypsin