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

Overview of attention for article published in Jornal Brasileiro de Pneumologia, September 2016
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Title
Prevalence of alpha-1 antitrypsin deficiency and allele frequency in patients with COPD in Brazil
Published in
Jornal Brasileiro de Pneumologia, September 2016
DOI 10.1590/s1806-37562015000000180
Pubmed ID
Authors

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

Abstract

To determine the prevalence of alpha 1-antitrypsin (AAT) deficiency (AATD), as well as allele frequency, in COPD patients in Brazil. 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. 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. 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. Determinar a prevalência da deficiência de alfa 1-antitripsina (AAT), bem como a frequência alélica, em pacientes com DPOC no Brasil. Estudo transversal com 926 pacientes com DPOC, com 40 anos ou mais, oriundos de cinco estados brasileiros. Todos os pacientes foram submetidos a dosagem de AAT em amostras de sangue seco por meio de nefelometria. Aqueles em que a concentração de AAT no sangue seco foi ≤ 2,64 mg/dl foram submetidos a dosagem sérica de AAT. Aqueles em que a concentração sérica de AAT foi < 113 mg/dl foram submetidos a genotipagem. Quando os resultados foram discrepantes, foi realizado o sequenciamento do gene SERPINA1. Dos 926 pacientes com DPOC estudados, 85 apresentaram concentração de AAT em sangue seco ≤ 2,64 mg/dl, e 24 (2,6% da amostra) apresentaram concentração sérica de AAT < 113 mg/dl. A distribuição genotípica nesse subgrupo de 24 pacientes foi a seguinte: PI*MS, em 3 (12,5%); PI*MZ, em 13 (54,2%); PI*SZ, em 1 (4,2%); PI*SS, em 1 (4,2%); e PI*ZZ, em 6 (25,0%). Na amostra estudada, a prevalência global da deficiência de AAT foi de 2,8% e a prevalência do genótipo PI*ZZ (deficiência grave de AAT) foi de 0,8%. A prevalência da deficiência de AAT em pacientes com DPOC no Brasil é semelhante àquela encontrada na maioria dos países e reforça a recomendação de que se deve medir a concentração de AAT em todos pacientes com DPOC.

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Mendeley readers

The data shown below were compiled from readership statistics for 38 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 38 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 5 13%
Other 5 13%
Student > Master 5 13%
Student > Postgraduate 4 11%
Student > Ph. D. Student 3 8%
Other 8 21%
Unknown 8 21%
Readers by discipline Count As %
Medicine and Dentistry 19 50%
Biochemistry, Genetics and Molecular Biology 3 8%
Pharmacology, Toxicology and Pharmaceutical Science 3 8%
Nursing and Health Professions 1 3%
Arts and Humanities 1 3%
Other 0 0%
Unknown 11 29%