Related Experiment Video
Updated: Jun 1, 2026

Isolation of Lung Retinoid-Containing Cells by Cell Sorting
Published on: April 11, 2025
Alpha-1-antitrypsin deficiency in early childhood
Aleksandra Topic1, Dragan Prokic, Ivica Stankovic
1University of Belgrade, Faculty of Pharmacy, Institute of Medical Biochemistry, Belgrade, Serbia. aleksandra.topic1@gmail.com
Abstract:
Alpha-1-antitrypsin deficiency (AATD), which predisposes liver disease in children, is often undiagnosed. Isoelectric focusing in 161 infants with liver dysfunction revealed 14.7% severe and 12.2% moderate AATD. Positive PAS-D and immunohistochemical staining was found in 60% of severe AATD, but in moderate AATD, only immunohistochemistry was positive in 100%. Bilirubinostasis, hepatomegaly, splenomegaly, cholestasis, hepatomegaly associated with cholestasis, acholia, high transaminases, and low birthweight were significantly more frequent in severe than in moderate AATD. Both AATDs showed significant portal inflammation, hepatic fibrosis, and viral infection. Early screening in children with liver dysfunction can contribute to the successful detection of AATD.
Related Concept Videos
Chronic Obstructive Pulmonary Disease I: Introduction
Inborn Errors of Metabolism
Chronic Obstructive Pulmonary Disease II: Emphysema
Type I Diabetes I: Introduction
Breathing
Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
