Brazilian Journal of Pulmonology

ISSN (on-line): 1806-3756 | ISSN (printed): 1806-3713

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

Prevalência da deficiência de alfa-1 antitripsina e frequência alélica em pacientes com DPOC no Brasil

Rodrigo Russo1,2, Laura Russo Zillmer1, Oliver Augusto Nascimento1, Beatriz Manzano1, Ivan Teruaki Ivanaga1, Leandro Fritscher3, Fernando Lundgren4, Marc Miravitlles5, Heicilainy Del Carlos Gondim6, Gildo Santos Junior7, Marcela Amorim Alves4, Maria Vera Oliveira8, Altay Alves Lino de Souza9, Maria Penha Uchoa Sales10, José Roberto Jardim1

J Bras Pneumol.2016;42(5):311-316

Abstract PDF PT PDF EN Portuguese Text

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.

 


Keywords: alpha 1-antitrypsin deficiency/epidemiology; pulmonary disease, chronic obstructive/epidemiology; Alleles; alpha 1-antitrypsin.

 


 

 


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