["alpha1-antitrypsin deficiency (2025 edition)"]
Abstract：["Alpha-1-antitrypsin deficiency (alpha1-antitrypsin deficiency, AATD) is an autosomal codominant genetic disorder caused by mutations in the SERPINA1 gene, which can lead to neonatal jaundice, chronic liver disease in children and adults, as well as early-onset chronic obstructive pulmonary disease (chronic obstructive pulmonary disease, COPD) and emphysema. The diagnosis of this disease mainly relies on serum alpha1-antitrypsin (AAT) concentration screening, gene testing, and isoelectric focusing gel electrophoresis to detect changes in AAT migration phenotypes."]
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Publication Date：2025-11-15
Online Publishing Date：2025-12-22(First online date of this platform, not the publication date of the document)
Pages：4( 7-9,14 )