Children with the PI*ZZ genotype of alpha-1 antitrypsin deficiency may develop liver disease than can progress to cirrhosis. The American Thoracic Society (ATS) and European Respiratory Society (ERS) have listed clinical indications for alpha-1 antitrypsin testing in pediatric patients.


Clinical findings that may be seen in PI*ZZ pediatric patients with liver disease:

(1) infant with unexplained increase in serum transaminases and/or total bilirubin

(2) infant with neonatal hepatitis

(3) infant with failure to thrive

(4) infant with vitamin K-deficiency coagulopathy

(5) child or adolescent with hepatomegaly with/without splenomegaly

(6) child or adolescent with symptoms of chronic liver disease

(7) first degree relative with PI*ZZ genotype


Findings associated with a poor prognosis:

(1) first degree relative with PI*ZZ genotype and liver disease

(2) neonatal cholestasis

(3) male gender

(4) prolonged hyperbilirubinemia

(5) prolonged elevation of GGT

(6) prolonged prothrombin time

(7) hard hepatomegaly

(8) early splenomegaly

(9) fuliminant liver disease


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