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alpha1-Antitrypsin deficiency and liver disease in children
Insights
Severe alpha1-antitrypsin deficiency (AATD) in children often leads to early liver disease. Early suspicion of AATD is crucial for infants presenting with neonatal hepatitis or unexplained liver enlargement.
Area of Science:
- Pediatrics
- Hepatology
- Genetics
Background:
- Severe alpha1-antitrypsin deficiency (AATD) is a genetic condition that can cause liver disease in children.
- The PiZ phenotype is associated with severe AATD and liver manifestations.
Abstract:
This report describes the clinical, biochemical, and hepatic morphologic findings in ten children with severe serum alpha1-antitrypsin deficiency. Genetic protease inhibitor (Pi) phenotyping, using acid-starch gel and crossed antigen-antibody electrophoresis, demonstrated Pi phenotype ZZ in all our cases. In eight patients, manifestations of liver disease appeared during the first year of life. The case reports show that alpha1-antitrypsin deficiency should be suspected in any child with neonatal hepatitis, unexplained hepatomegaly or splenomegaly, or cirrhosis. In our report, one infant is normal at age 6 months, and one infant had progressive hepatic damage that culminated in liver failure and death at age 6 months. The variable clinical course and prognosis for infants with severe alpha1-antitrypsin deficiency is well illustrated by these two infants.