MATERIAL AND METHODS: At the Institute of Immunobiology and Human Genetics, part of the Faculty of Medicine in Skopje, in the previous 7 years, total of 361 patients with suspected alpha-1-antitrypsin (AAT) deficiency were referred for analysis of AAT concentration using nephelometry (Dade Behring) and subsequent AAT genotyping of individuals with alpha-1antytripsin deficiency at protein level,...

ROSENBAUM EM, CHAPATON-RIVARD E, OVERDORF C. Alpha 1 Antitrypsin Deficiency, Two Cases of Heterozygous S and Clayton Null Alleles. Spartan Med. Res. J. Vol. 2, No. 2, pp. 22-28, 2017. CONTEXT: Alpha-1 antitrypsin deficiency (AATD) is a disorder that can lead to early onset lung and liver disease and is considered to be underdiagnosed. The purpose of this paper is to demonstrate the importance o...

Alpha-1 antitrypsin deficiency (AATD) is a hereditary disorder characterised by low circulating levels of the key antiprotease alpha-1 antitrypsin (AAT) and is associated with the development of chronic obstructive pulmonary disease (COPD), often by the 3rd or 4th decade, and liver disease. The two most common SERPINA1 mutations associated with AATD are the Z and S mutations, and the vast major...

Background and Aims: Chronic obstructive pulmonary disease (COPD) is a kind of pulmonary diseases characterized by chronic obstruction of lung that is in the form of a diffuse narrowing of airways resulting in air flow resistance. Alpha-1 antitrypsin (AAT) deficiency is genetically relatively common risk factor in patients with COPD throughout the world and the exact cause of its prevalence is ...

The objective was to assess the cost-effectiveness of population screening for alpha-1 antitrypsin (AAT) deficiency. The design was a Markov-based decision analytic model. Hypothetical cohorts were analyzed from birth and followed over time until death using Monte Carlo simulation. The following strategies were compared: 1) screen all newborns, 2) screen all 10-year-old children, and 3) do not ...