Determination of alpha 1-antitrypsin levels and of the presence of S and Z alleles in a population of patients with chronic respiratory symptoms

Author(s)

Heliane Guerra Serra ^[1] ; Carmen Sílvia Bertuzzo ^[2] ; Mônica Corso Pereira ^[3] ; Cláudio Lúcio Rossi ^[4] ; Walter Pinto Júnior ^[5] ; Ilma Aparecida Paschoal ^[6]

Affiliation

^[1] Universidade Estadual de Campinas. Faculdade de Ciências Médicas - Brasil

^[2] Universidade Estadual de Campinas. Faculdade de Ciências Médicas. Departamento de Genética Médica - Brasil

^[3] Pontifícia Universidade Católica de Campinas. Faculdade de Medicina - Brasil

^[4] Universidade Estadual de Campinas. Faculdade de Ciências Médicas. Departamento de Patologia Clínica - Brasil

^[5] Universidade Estadual de Campinas. Faculdade de Ciências Médicas - Brasil

^[6] Universidade Estadual de Campinas. Faculdade de Ciências Médicas. Departamento de Clínica Médica - Brasil

• Document type: Journal article
• Source: Jornal Brasileiro de Pneumologia; v. 34, n. 12, p. 1019-1025, 2008-12-00.

Abstract

OBJECTIVE: To determine the levels of alpha-1 antitrypsin (AAT) and the presence of S and Z alleles in patients with chronic respiratory symptoms. METHODS: Patients with chronic cough and dyspnea were submitted to clinical evaluation, pulmonary function tests, high-resolution computed tomography, nephelometric determination of AAT and determination of S and Z alleles by polymerase chain reaction. Smoking and AAT levels were considered the dependent variables. RESULTS: Of the 89 patients included in the study, 44 were female. The mean age was 51.3 ± 18.2 years. The S and Z alleles were detected in 33.3% and 5.7%, respectively, and the gene frequency was 0.16 and 0.028, respectively. Two patients were SZ heterozygotes (AAT levels < 89 mg/dL). The patients were divided into groups based on AAT level: < 89 mg/dL (deficiency, no group); 90-140 mg/dL (intermediate, Group 1, n = 30); and > 141 mg/dL (normal, Group 2, n = 57). The frequency of smokers was the same in both groups, although tobacco intake was greater in Group 2. The S allele was present in 13 and 14 patients in Groups 1 and 2, respectively, whereas the Z allele was present in 2 and 1 patient in the same groups. There was no difference in the results of pulmonary function tests or in the frequency of bronchiectasis or emphysema between the two groups. Spirometric values and AAT levels were similar in smokers and nonsmokers. Bronchiectasis was more common in nonsmokers, and emphysema was more common in smokers. CONCLUSIONS: Thirty patients presented AAT levels lower than the mean values found in patients with the MM or MS genotype, and this fact could not be explained by an increased frequency of S and Z alleles. (AU)