Description
Title: Genetyczne warianty alpha-1 antytrypsyny: clinical significance
Abstract: Alpha-1 antitrypsin deficiency is one of the three genetic conditions that affect Caucasians the most frequently. It significantly raises the risk of cancer, chronic liver diseases like cirrhosis and hepatitis, as well as progressive obstructive lung diseases, primarily chronic obstructive pulmonary disease. One of the most prevalent deficiency phenotypes, estimated to be present in more than 5.5% of the Polish population, may be relatively simple to identify due to low serum levels of alpha-1 antitrypsin. Alpha-1 antitrypsin deficiency, though, might also be qualitative in addition to quantitative. These dysfunctional alpha-1 antitrypsin variants exhibit little antiproteolytic activity and frequently fully functional protein synthesis, which results in normal serum levels. Consequently, only pheno- or genotyping can be used to identify dysfunctional variants. The main genetic alpha-1 antitrypsin variants are described in this review along with their clinically relevant properties.
Keywords: alpha-1 antitrypsin deficiency, genetic variants of alpha-1 antitrypsin, chronic obstructive pulmonary disease
Paper Quality: SCOPUS / Web of Science Level Research Paper
Subject: Advances in Respiratory Medicine
Writer Experience: 20+ Years
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