Jornal Brasileiro de Pneumologia ()

Prevalence of alpha-1 antitrypsin deficiency and allele frequency in patients with COPD in Brazil

  • Rodrigo Russo,
  • Laura Russo Zillmer,
  • Oliver Augusto Nascimento,
  • Beatriz Manzano,
  • Ivan Teruaki Ivanaga,
  • Leandro Fritscher,
  • Fernando Lundgren,
  • Marc Miravitlles,
  • Heicilainy Del Carlos Gondim,
  • Gildo Santos Junior,
  • Marcela Amorim Alves,
  • Maria Vera Oliveira,
  • Altay Alves Lino de Souza,
  • Maria Penha Uchoa Sales,
  • José Roberto Jardim

DOI
https://doi.org/10.1590/S1806-37562015000000180
Journal volume & issue
Vol. 42, no. 5
pp. 311 – 316

Abstract

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ABSTRACT 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.

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