ABSTRACT
La enfermedad pulmonar obstructiva crónica (EPOC) tiene una prevalencia en España del 10,2%. El principal factor etiológico es el tabaco. La exposición al humo de biomasa y el déficit de alfa-1 antitripsina (DAAT) también se relacionan con su desarrollo. El DAAT es una condición genética en la que subyace el 2-3% de los pacientes con EPOC. El objetivo de este estudio descriptivo transversal fue descartar el DAAT en pacientes con EPOC del CS Culleredo, A Coruña. Para ello se realizó la prueba de la gota de sangre gruesa en papel secante y el estudio de variantes PI*S y PI*Z del gen SERPINA1 mediante análisis de curvas de desnaturalización tras amplificación simultánea por reacción en cadena de la polimerasa. El estudió analizó 80 pacientes entre 40-80 años. Un 30% eran portadores de un alelo deficitario en heterocigosis, que en el 80% de ellos se trataba del alelo S. Se detectó un caso PiSZ (1,25%) y ninguno PiZZ. Esto representa una frecuencia alélica de 3,1% para el PiZ y 13,1% para el PiS. Las frecuencias alélicas detectadas son superiores a las descritas previamente para la población española. Este trabajo excluye el déficit grave de AAT en el 98,75% de la población estudiada. El caso con genotipo Pi*SZ fue diagnosticado en una fase precoz de la enfermedad. El estudio cumple con uno de los indicadores de calidad asistencial recomendados por GesEPOC y constata una elevada frecuencia alélica PiS y PiZ en la zona, que será referencia de futuros estudios en Galicia (AU)
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 (AU)
Subject(s)
Humans , Adult , Middle Aged , Aged , Aged, 80 and over , Pulmonary Disease, Chronic Obstructive/complications , Pulmonary Disease, Chronic Obstructive/diagnosis , alpha 1-Antitrypsin Deficiency/diagnosis , Primary Health Care/methods , Chronic Disease/epidemiology , Chronic Disease/prevention & control , Cross-Sectional Studies/methods , Protein Denaturation , Confidence IntervalsABSTRACT
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.
