engleski

Detection of alfa1-antitrypsin deficiency in children with lung diseases

The aim of the study was to determine the diagnostic value of serum protein electrophoresis in detection of children possibly suffering from alpha-1-antitrypsin deficiency among children with lung diseases. Serum protein electrophoresis, quantitative determination of alpha-1-antitrypsin concentration, and alpha-1-antitrypsin phenotyping and genotyping were used to evaluate a diagnostic approach in laboratory detection of alpha-1-antitrypsin deficiency in 181 school children (aged 6-14 years) with inflammatory lung diseases (asthma in 76, pneumonia in 84, recurrent pneumonia in 11, and lung tuberculosis in ten children). The alpha-1-globulin fraction of 2.3% on serum protein electrophoresis was used as a cut-off value for subsequent detection of alpha-1-antitrypsin deficiency. The proteinase inhibitor MZ phenotype/genotype was confirmed in 2.76% of children with a serum concentration of alpha-1-antitrypsin <2.0 g/L and relative proportion of serum protein alpha-1 fraction </=2.3%. In children with lung diseases, the relative alpha 1-globulin fraction of </=2.3% on serum protein electrophoresis points to the need of additional laboratory testing (alpha-1-antitrypsin concentration, phenotyping/genotyping) to verify or reject the diagnosis of alpha-1-antitrypsin deficiency.

Alpha1-antitrypsin; lung diseases; blood protein electrophoresis

Rad u čsopisu prema Pravilniku NN 2/97.