Objective:To determine the prevalence of alpha 1-antitrypsin (AAT) deficiency (AATD), as well as allele frequency, in COPD patients in Brazil. Methods:This was a cross-sectional study involving 926 COPD patients 40 years of age or older, from five Brazilian states. All patients underwent determination of AAT levels in dried blood spot (DBS) samples by nephelometry. Those with DBS AAT levels ≤ 2.64 mg/dL underwent determination of serum AAT levels. Those with serum AAT levels of < 113 mg/dL underwent genotyping. In case of conflicting results, SERPINA1 gene sequencing was performed. Results:Of the 926 COPD patients studied, 85 had DBS AAT levels ≤ 2.64 mg/dL, and 24 (2.6% of the study sample) had serum AAT levels of < 113 mg/dL. Genotype distribution in this subset of 24 patients was as follows: PI*MS, in 3 (12.5%); PI*MZ, in 13 (54.2%); PI*SZ, in 1 (4.2%); PI*SS, in 1 (4.2%); and PI*ZZ, in 6 (25.0%). In the sample as a whole, the overall prevalence of AATD was 2.8% and the prevalence of the PI*ZZ genotype (severe AATD) was 0.8% Conclusions:The prevalence of AATD in COPD patients in Brazil is similar to that found in most countries and reinforces the recommendation that AAT levels be measured in all COPD patients.
OBJECTIVE: To validate and develop an immunonephelometric assay for the determination of
alpha-1 antitrypsin (AAT) levels in dried blood spots from COPD patients in
Brazil. METHODS: We determined AAT levels in serum samples and dried blood spots from 192 COPD
patients. For the preparation of dried blood spots, a disk (diameter, 6 mm) was
placed into a tube, eluted with 200 µL of PBS, and stored overnight at 4ºC. All of
the samples were analyzed by immunonephelometry in duplicate. We used the
bootstrap resampling method in order to determine a cut-off point for AAT levels
in dried blood spots. RESULTS: The correlation coefficient between the AAT levels in serum samples and those in
dried blood spots was r = 0.45. For dried blood spots, the cut-off value was 2.02
mg/dL (97% CI: 1.45-2.64 mg/dL), with a sensitivity, specificity, positive
predictive value, and negative predictive value of 100%, 95.7%, 27.2%, and 100%,
respectively. CONCLUSIONS: This method for the determination of AAT levels in dried blood spots appears to
be a reliable screening tool for patients with AAT deficiency.
The HPV types detected in the RTR population were similar to those described in immunocompetent populations. However, the diversity of the HPV types identified and the number of lesions were increased in the RTR population.
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