OPEN ACCESS Jacobs Journal of Pediatrics Alpha-1-Antitrypsin Deficiency in Children: Clinical Impact of the Liver Involvement
نویسندگان
چکیده
Introduction Alpha-1-antitrypsin deficiency (AATD) is one of the most common genetic disorders, with an estimated prevalence of 1:2000 to 1:5000 in Europe and Scandinavia, depending on the geographic location and type of epidemiologic study [9]. The alpha-1-antitrypsin gene, or SERPINA1 gene (serine proteinase inhibitor), is located on chromosome 14. Patients with the homozygous AAT deficiency PI-ZZ genotype usually have AAT serum concentrations that are no more than 0.3 g/L (usual range in individuals with the normal PI-MM genotype: 0.9–2.0 g/L) and the AAT molecules in these individuals show impaired function [12]. In subjects with milder forms of AATD (e. g, with genotypes PI-SS, PI-SZ, PI-MZ, and PI-MS), serum AAT concentrations usually range from 0.5–1.0 g/L [1,8]. Abstract
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