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Alpha-1 Antitrypsin Deficiency Screening in Adults with Bronchiectasis Using Dry Blood Spot
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A1759 - Alpha-1 Antitrypsin Deficiency Screening in Adults with Bronchiectasis Using Dry Blood Spot
Author Block: M. Fernandez-Acquier1, P. Csipka1, J. Sulprizio1, P. Malamud1, E. Giugno2, S. Pace1, G. Gramblicka1, O. R. Lopez Jove3, Y. Wu1, Y. Hsueh1; 1Hospital del Torax A. Cetrangolo, Vicente Lopez, Argentina, 2CETRANGOLO, Buenos Aires, Argentina, 3Hospital del Torax A. Cetrangolo, Vicente Lopez 1638 BA, Argentina.
RATIONALE: the hereditary alpha-1 antitripsin deficiency (AATD) predisposes to the development of chronic obstructive pulmonary disease (COPD), emphysema in particular. This disease is a very common hereditary disorder but highly sub diagnosed, for this reason the development of screening programs is recommended in order to identify the affected population. Association between AATD and bronchiectasis has been described but data is limited in relation of frequency and type of bronchiectasis, as well as symptoms and lung function test.
The Objective is to evaluate the results of a AATD screening program in patients with bronchiectasis using dry blood spot (DBS) samples and further genotyping those patients with concentrations below the established cut-off point.
METHODS: samples of 185 patients with bronchiectasis were analyzed. AAT concentration was determined in DBS by nephelometry (Immage, Beckman Coulter). Patients who presented protein concentration below the cut-off, were genotyped. A 1.80 mg/dl cutt-off in DBS was validated. This corresponds to 100 mg/dl seric AAT. The method used for the genotyping was a real time PCR with primers and specific hybridization probes which detects both S and Z mutation.
RESULTS: in 172 patients (92.9%) the deficiency was ruled out because they presented AAT concentrations above the established cut-off. Of the remaining 13 (7.1%), 2 ZZ, 2 SZ, 1 heterozygote S and 8 nonS nonZ were found. This last particular genotype group had values limiting the cut-off.
CONCLUSION: the prevalence of severe AATD in bronchiectasis was 2.16%, specifically 4 patients of 185 total. Furthermore, an S allele carrier was found. The screening method by DBS is simple, fast, cost-effective and of great utility for mass analysis of samples. It is also suitable for genotyping diana mutations and, if necessary, gen sequence.
Author Block: M. Fernandez-Acquier1, P. Csipka1, J. Sulprizio1, P. Malamud1, E. Giugno2, S. Pace1, G. Gramblicka1, O. R. Lopez Jove3, Y. Wu1, Y. Hsueh1; 1Hospital del Torax A. Cetrangolo, Vicente Lopez, Argentina, 2CETRANGOLO, Buenos Aires, Argentina, 3Hospital del Torax A. Cetrangolo, Vicente Lopez 1638 BA, Argentina.
RATIONALE: the hereditary alpha-1 antitripsin deficiency (AATD) predisposes to the development of chronic obstructive pulmonary disease (COPD), emphysema in particular. This disease is a very common hereditary disorder but highly sub diagnosed, for this reason the development of screening programs is recommended in order to identify the affected population. Association between AATD and bronchiectasis has been described but data is limited in relation of frequency and type of bronchiectasis, as well as symptoms and lung function test.
The Objective is to evaluate the results of a AATD screening program in patients with bronchiectasis using dry blood spot (DBS) samples and further genotyping those patients with concentrations below the established cut-off point.
METHODS: samples of 185 patients with bronchiectasis were analyzed. AAT concentration was determined in DBS by nephelometry (Immage, Beckman Coulter). Patients who presented protein concentration below the cut-off, were genotyped. A 1.80 mg/dl cutt-off in DBS was validated. This corresponds to 100 mg/dl seric AAT. The method used for the genotyping was a real time PCR with primers and specific hybridization probes which detects both S and Z mutation.
RESULTS: in 172 patients (92.9%) the deficiency was ruled out because they presented AAT concentrations above the established cut-off. Of the remaining 13 (7.1%), 2 ZZ, 2 SZ, 1 heterozygote S and 8 nonS nonZ were found. This last particular genotype group had values limiting the cut-off.
CONCLUSION: the prevalence of severe AATD in bronchiectasis was 2.16%, specifically 4 patients of 185 total. Furthermore, an S allele carrier was found. The screening method by DBS is simple, fast, cost-effective and of great utility for mass analysis of samples. It is also suitable for genotyping diana mutations and, if necessary, gen sequence.
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