PULMONARY-FUNCTION IN HETEROZYGOTES FOR ALPHA1-ANTITRYPSIN DEFICIENCY - CASE-CONTROL STUDY

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Abstract
The initial cross-sectional data from a prospective study of lung aging in heterozygotes for .alpha.1-antitrypsin deficiency is presented. Using a case-control design, cases included 37 heterozygotes for .alpha.1-antitrypsin deficiency, protease inhibitor phenotypes MZ and MS, selected because they were parents of children with homozygous .alpha.1-antitrypsin deficiency identified in a statewide newborn screening program between 1971 and 1974. All of the heterozygotes were < 40 yr of age. Control subjects were selected from a random sample of a working population participating in a longitudinal study of lung aging, using a 2:1 match of control subjects to cases, matching age, sex, ethnic origin and smoking. Using a respiratory symptom questionnaire, spirometry and the single-breath N2 test, no significant differences were found between heterozygotes and control subjects in terms of respiratory symptoms or pulmonary function data. The heterozygous phenotype (Pi MZ and MS) is not a risk factor for impairment of pulmonary function up to 40 yr of age.