Alpha-1 antitrypsin deficiency and other metabolic liver diseases

Chapter 18 Alpha-1 antitrypsin deficiency and other metabolic liver diseases






Alpha-1 Antitrypsin Deficiency (α-1 ATD)




Clinical Features







TABLE 18.1 Findings in patients with alpha-1 antitrypsin deficiency (PiZZ or PiSZ phenotype)



















  Infancy (1–4 mo) (%) At 18 yr of age (%)
Elevated serum alanine aminotransferase levels 48 10
Elevated serum gamma glutamyltranspeptidase levels 60 8
Clinical signs of liver disease 17 0

From Sveger T, Eriksson S. The liver in adolescents with alpha 1-antitrypsin deficiency. Hepatology 1995; 22:514–517.




Pathogenesis and Diagnosis










Treatment and Screening











Hereditary Tyrosinemia





Jun 4, 2016 | Posted by in GASTROENTEROLOGY | Comments Off on Alpha-1 antitrypsin deficiency and other metabolic liver diseases
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