Płukanie oskrzelowo-pęcherzykowe (BAL, bronchoalveolar lavage) nadal zajmuje bardzo istotną po-zycję w diagnostyce pierwotnych chorób płuc o różnym podłożu: infekcyjnych, śródmiąższowych, no-wotworowych oraz patologii płucnych występujących w przebiegu innych schorzeń, w tym układowych [...]

Inherited alpha-1 antitrypsin deficiency (A1ATD) is listed among the three most common genetic disorders in Caucasians. It considerably increases the risk of progressive obstructive lung diseases, mostly chronic obstructive pulmonary disease. Data on the A1ATD prevalence in Poland are scarce, no studies with large enough groups representative for whole Polish population have been performed. Here, we present the preliminary data on the incidence of A1AT main deficiency alleles from the newborn screening in Mazovia (Central Poland) region. Real-time PCR genotyping and A1AT blood concentration measure- ment by nephelometry were performed from the dry blood spots (DBS) samples of 658 newborns. Deficiency alleles PI*Z i PI*S were present in 28 children, respectively in 2.8% and 1.5%. Their existence corresponded with significantly lower A1AT blood concentration. Estimated incidence of deficiency alleles was 13.7/1000 (95% CI 5.8–21.5) for PI*Z and 7.6/1000 (95% CI 1.7–13.5) for PI*S. The calculated prevalence for the main deficiency genotype ZZ was 1/5345. The study is on-going.

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Przewlekła obturacyjna choroba płuc (POChP) jest dla współczesnych społeczeństw poważnym problemem epidemiologicznym, społecznym i ekonomicznym [...]

The deficiency of serine protease inhibitor, alpha-1-antitrypsin (AATD), is genetically determined defect that increases the risk of lung and liver disease development. The results of recent epidemiological studies indicate the overwhelming majority of individuals with alpha-1-antitrypsin deficiency still remain undiagnosed. The complete laboratory diagnosis of AATD is based on combination of quantitative and qualitative methods. The measurment of plasma/serum AAT concentration is always the initial test performed in the clinically suspected individuals. Nevertheless, only the AAT phenotype or genotype identification allows the full medical verification of the diagnosis. Among the various techniques of either AAT variant phenotyping or genotyping accepted by reference medical centers worldwide, the isoelectric focusing, real-time-PCR and restriction fragment-length polymorphism PCR (RFLP-PCR) are “considered the most effective” performed the most commonly. The AAT diagnostics in Poland still awaits for introduction into clinical routine. The aim of present review is to outline the major methods of AATD diagnosis and discuss with the special issuing of their potential benefits and disadvantages.