The relationship of chronic sputum expectoration to physiologic, radiologic, and health status characteristics in alpha(1)-antitrypsin deficiency (PiZ).
ABSTRACT First, to determine the relationships among chronic sputum expectoration (CSE), exacerbations, airflow obstruction, and emphysema in patients with alpha(1)-antitrypsin deficiency (alpha(1)-ATD) [PiZ]. Second, to use multivariate analysis to determine how these factors influence health status.
UK center for alpha(1)-ATD, university teaching hospital.
One hundred seventeen nonsmoking patients underwent lung function testing, high-resolution CT (HRCT) scanning with density mask analysis, and health status assessment using the St. George's Respiratory Questionnaire (SGRQ) and short form 36 (SF-36) health survey questionnaire.
Patients with CSE (n = 50) had worse postbronchodilator airflow obstruction than those who did not (p = 0.03), with a median FEV(1) of 1.15 L (interquartile range [IQR], 0.76 to 1.82) vs 1.44 L (IQR, 0.99 to 2.93), respectively, and higher HRCT scan voxel index (VI) values indicating more extensive emphysema (patients with CSE: median lower zone VI, 50; IQR, 28 to 61; patients without CSE: median lower zone VI, 41; IQR, 5 to 53; p = 0.04). Patients with CSE also had worse health status, as assessed by the SGRQ (p < 0.01 for all domains) and SF-36 questionnaire (p < 0.05 for seven of nine domains). Exacerbation frequency was greater in those patients with CSE (p < 0.001), with a median of two episodes per year (IQR, 1 to 3) vs 0.66 episodes per year (IQR, 0 to 2) for those without CSE. Stepwise linear regression analysis revealed FEV(1), exacerbation frequency, and lower zone VI to be the most important predictors of health status.
Among patients with alpha(1)-ATD, those with CSE expectoration exhibit greater physiologic impairment and more extensive emphysema than those without. This is reflected in an inferior health status, which is also influenced independently by an increased exacerbation frequency in those with CSE.
Article: Screening for Alpha 1 antitrypsin deficiency in Tunisian subjects with obstructive lung disease: a feasibility report.[show abstract] [hide abstract]
ABSTRACT: AATD is one of the most common inherited disorders in the World. However, it is generally accepted that AATD in North African populations is not a risk factor for lung and/or liver disease, based on a number of small studies. We therefore planned a screening study for detection of AATD in patients with OLD in a cohort of patients from Kairouan in central Tunisia. One hundred twenty patients with OLD (asthma, emphysema, COPD) were enrolled in the screening programme. Laboratory diagnosis for AATD was performed according to current diagnostic standards. We found that 6/120 OLD patients carried an AAT deficient allele, 1 PI*MZ, 1 PI*MPlowel, 3 PI*MMmalton, 1 PI*MMwurzburg. this pilot study demonstrated that alleles related to deficiency of AAT are not absent in the Tunisian population, and that rare AATD variants prevailed over commonest PI*Z variant. These results would support a larger scale screening for AATD in Tunisia.Orphanet Journal of Rare Diseases 05/2009; 4:12. · 5.83 Impact Factor
Archivos de bronconeumología: Organo oficial de la Sociedad Española de Neumología y Cirugía Torácica SEPAR y la Asociación Latinoamericana de Tórax (ALAT), ISSN 0300-2896, Vol. 42, Nº. 12, 2006, pags. 645-659.