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Health status and lung function in the Swedish alpha 1-antitrypsin deficient cohort, identified by neonatal screening, at the age of 37-40 years.
Piitulainen, Eeva; Mostafavi, Behrouz; Tanash, Hanan A.
Afiliación
  • Piitulainen E; Department of Respiratory Medicine and Allergology, Skåne University Hospital, Lund University, Malmö, Sweden.
  • Mostafavi B; Department of Respiratory Medicine and Allergology, Skåne University Hospital, Lund University, Malmö, Sweden.
  • Tanash HA; Department of Respiratory Medicine and Allergology, Skåne University Hospital, Lund University, Malmö, Sweden.
Article en En | MEDLINE | ID: mdl-28203073
BACKGROUND: Severe alpha 1-antitrypsin (AAT) deficiency (genotype PiZZ) is a well-known risk factor for COPD. A cohort of PiZZ and PiSZ individuals was identified by the Swedish national neonatal AAT screening program in 1972-1974 and followed up regularly since birth. Our aim was to study the lung function, respiratory symptoms and health status at the age of 38 years in comparison with a random sample of control subjects selected from the population registry. METHODS: The study group included 120 PiZZ, 46 PiSZ and 164 control subjects (PiMM), who answered a questionnaire on smoking habits and symptoms and the Saint George Respiratory Questionnaire (SGRQ) on quality of life. A total of 89 PiZZ, 33 PiSZ and 92 PiMM subjects underwent spirometry. RESULTS: Four percent of the PiZZ, 2% of the PiSZ and 12% of the control subjects were current smokers (P=0.008), and 17% of the PiZZ, 9% of the PiSZ and 21% of the control subjects had stopped smoking. The PiZZ current smokers had a significantly higher (ie, poorer) median activity score according to the SGRQ than the PiZZ never-smokers (P=0.032). The PiMM current smokers had significantly higher activity score (P<0.001), symptom score (P<0.001), and total score (P=0.001) according to the SGRQ than the PiMM never-smokers. The PiZZ current smokers had a significantly lower postbronchodilator forced expiratory volume in 1 second (FEV1)% of predicted value (P=0.019) and FEV1/forced vital capacity (FVC) ratio (P=0.032) than the PiZZ never-smokers. The proportion of subjects with a FEV1/FVC ratio of <0.70, indicating COPD, was significantly higher in the PiZZ current smokers than in the PiZZ never-smokers (P=0.001). Among the PiSZ and PiMM subjects, the differences in lung function between the smoking subgroups were insignificant. CONCLUSION: PiZZ current smokers were found to have signs of COPD before 40 years of age. Smoking is less common among the AAT-deficient subjects identified by neonatal screening than among their peers in the general population.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Alfa 1-Antitripsina / Estado de Salud / Tamizaje Neonatal / Deficiencia de alfa 1-Antitripsina / Enfermedad Pulmonar Obstructiva Crónica / Pulmón / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Aspecto: Determinantes_sociais_saude / Patient_preference Límite: Adult / Female / Humans / Male / Newborn País/Región como asunto: Europa Idioma: En Revista: Int J Chron Obstruct Pulmon Dis Año: 2017 Tipo del documento: Article País de afiliación: Suecia Pais de publicación: Nueva Zelanda

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Alfa 1-Antitripsina / Estado de Salud / Tamizaje Neonatal / Deficiencia de alfa 1-Antitripsina / Enfermedad Pulmonar Obstructiva Crónica / Pulmón / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Aspecto: Determinantes_sociais_saude / Patient_preference Límite: Adult / Female / Humans / Male / Newborn País/Región como asunto: Europa Idioma: En Revista: Int J Chron Obstruct Pulmon Dis Año: 2017 Tipo del documento: Article País de afiliación: Suecia Pais de publicación: Nueva Zelanda