PT  - JOURNAL ARTICLE
AU  - Rodrigo Russo
AU  - Laura Zillmer
AU  - Oliver Nascimento
AU  - Gildo Francisco Santos, Junior
AU  - Leandro Fritscher
AU  - Marc Miravitlles
AU  - Fernando Lundgren
AU  - Marcela Amorim Alves
AU  - Heicilany Del Carlos Gondim
AU  - Maria Penha Uchoa Sales
AU  - Maria Vera Cruz Oliveira
AU  - Altay A.L. Souza
AU  - José Roberto Jardim
TI  - Prevalence of alpha-1 antitrypsin deficiency (AATD) and frequencies of alleles PI*S and PI*Z in patients with COPD in Brazil
DP  - 2013 Sep 01
TA  - European Respiratory Journal
PG  - P945
VI  - 42
IP  - Suppl 57
4099  - http://erj.ersjournals.com/content/42/Suppl_57/P945.short
4100  - http://erj.ersjournals.com/content/42/Suppl_57/P945.full
SO  - Eur Respir J2013 Sep 01; 42
AB  - Introduction: AATD affects about one in 2000–5000 individuals. According to PLATINO study, there are 5 to 7 million patients with COPD in Brazil, however there is no epidemiological data on the prevalence of AATD or the frequency of occurrence of deficiency alleles among them.Objective: to estimate the prevalence of AATD in patients with COPD in Brazil and the frequency of occurrence of deficiency alleles.Methods: dried blood spot (DBS) samples were tested for ATT in 1019 patients with COPD in five Brazilian cities. Eluated was prepared from DBS 6mm diameter perforated discs (WhatmanTM, GE, 903, lot W101, USA) and 200 μmL phosphate-buffered saline (pH 7.4) overnight at 4° C. All individuals with DBS dosage less than 2.64 mg/dl (upper limit of the confidence interval of the cutoff point) were considered as possible disabled and an AAT serum dosage was performed. All individuals with a serum dosage <113 mg/dl had a genotyping performed. Serum and DBS samples were determined using the rate immune nephelometric method (Siemens, BNII).Results: 99 patients had a DBS dosage equal or less than 2.64 mg/dl and 26 of them a serum dosage <113 mg/dl. The prevalence of AATD in patients with COPD was 2.55%. Frequency of the main deficiency phenotypes were: PiMZ (1.17%), PiZZ (0.78%), PiMS (0.40%), PiSS (0.1%), and PiSZ (0.1%).Conclusion: this is the first study designed to establish the prevalence of AATD and frequency of deficiency alleles in patients with COPD in Brazil. The prevalence of 2.55% reflects the rates found in studies around the world and reinforces the need for screening all patients with COPD followed by genotyping patients with AATD.