Detección del déficit de alfa-1 antitripsinaestudio en pacientes con enfermedad pulmonar obstructiva crónica diagnosticados en atención primaria

  1. R. García-Palenzuela 1
  2. R. Timiraos Carrasco 1
  3. M.I. Gómez-Besteiro 2
  4. G. Lavia 1
  5. M. Lago Pose 1
  6. B. Lara 3
  1. 1 CS de Acea da Ma, Culleredo, A Coruña, España
  2. 2 Xerencia de Xestión Integrada A Coruña, España
  3. 3 Coventry and Warwickshire University Hospitals, Reino Unido
Semergen: revista española de medicina de familia

ISSN: 1138-3593

Ano de publicación: 2017

Número: 4

Páxinas: 289-294

Tipo: Artigo


Outras publicacións en: Semergen: revista española de medicina de familia

Objetivos de desarrollo sostenible


The prevalence of chronic obstructive pulmonary disease (COPD) in Spain is 10.2%. Although tobacco is the main aetiological factor, biomass smoke exposure and alpha-1 antitrypsin deficiency (AATD) have also been related to its development. AATD is a genetic condition which could be causing 2-3% of COPD cases. The aim of this cross-sectional descriptive study was to exclude the existence of AATD in a population of COPD patients from CS Culleredo, A Coruña. The thick blood drop test on blotting paper, as well as the analysis of the mutations PI*S and PI*Z of the gene SERPINA 1 by the analysis of denaturing gradients after simultaneous amplification related to PCR (polymerase chain reaction). The study population included 80 patients between 40-80 years old, of whom 30% were carriers of a deficient allele (heterozygous), and 80% of them were the allele PiS. Only one PiSZ (1.25%) individual and no PiZZ was detected. This represents an allelic frequency of 3.1% (PiZ), and 13.1% (PiS). The detected allelic frequencies are higher than previously reported in the Spanish population. Severe AATD has been excluded in 98.75% of the study population. The Pi*SZ patient has been diagnosed in an early stage of the disease. We have also achieved one of the quality indicators recommended by GesEPOC. Our area has shown a high PiS and PiZ frequency, thus our study could be used as a reference for further research in the Galician population.