OMIM = Online Medalian Inheritance of Men
  • antibiotics
  • enzyme replacement therapy
  • liver transplantation
  • no smoking
rare (1-5:10000)
autosomal recessive
mutation in the SERPINA1 gene
> 70 genetic variants (PI types) therapy: risks of smoking ! aggresive treatment of pulmonary infections enzyme replacement (pooled human blood or recombinant AAT) liver transplantation
cirrhosis or fibrosis of liver
failure to thrive
gastrointestinal hemorrhage (bleeding)
liver carcinoma
liver failure
liver involvement or dysfunction
no consistent clinical signs or symptoms
onset, adolescent
onset, adulthood
onset, neonatal
portal hypertension
laboratory finding
alpha-1-Antitrypsin 150.00350.00mg/dlserum
Transaminases0.000.00 U/lplasma
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