title: [Detection of alpha-1 antitrypsin deficiency: A study on patients diagnosed with chronic obstructive pulmonary disease in primary health care].
abstract: 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.
authors.affiliation: CS de Acea da Ma, Culleredo, A Coruña, España.
authors.forename: R
authors.initials: R
authors.lastname: García-Palenzuela
authors.affiliation: CS de Acea da Ma, Culleredo, A Coruña, España.
authors.forename: R
authors.initials: R
authors.lastname: Timiraos Carrasco
authors.affiliation: Xerencia de Xestión Integrada A Coruña, España.
authors.forename: M I
authors.initials: MI
authors.lastname: Gómez-Besteiro
authors.affiliation: CS de Acea da Ma, Culleredo, A Coruña, España.
authors.forename: G
authors.initials: G
authors.lastname: Lavia
authors.affiliation: CS de Acea da Ma, Culleredo, A Coruña, España.
authors.forename: M
authors.initials: M
authors.lastname: Lago Pose
authors.affiliation: Coventry and Warwickshire University Hospitals, Reino Unido. Electronic address: beat1134@gmail.com.
authors.forename: B
authors.initials: B
authors.lastname: Lara
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D003430:Cross-Sectional Studies; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D011320:Primary Health Care; D029424:Pulmonary Disease, Chronic Obstructive / Q000453:epidemiology / Q000209:etiology*; D013030:Spain / Q000453:epidemiology; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology*
keywords: Alpha-1 antitrypsin deficiency; Chronic obstructive pulmonary disease; Diagnoses; Diagnóstico; Déficit de alfa-1 antitripsina; Enfermedad pulmonar obstructiva crónica