Alpha-1 antitrypsin deficiency

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• Synonyms

  • a-1 antitrypsin deficiency
  • ?-1 antitrypsin deficiency
  • ?1 antitrypsin deficiency

• Causes

  • Scandinavian descent
  • SERPINA1 gene mutation

• Effects

  • Dyspnoea
  • Bronchoconstriction
  • Cough
  • Panacinar emphysema
  • Chronic liver disease
  • Periodic acid schiff stain positive

• Parents

  • Liver disease
  • Autosomal dominant congenital metabolic disease

• Description

  • "SERPINA1 gene mutation Alpha-1 antytrypsin protects the lungs from damage Deficiency symptoms: -dyspnoea -Wheezing -Chronic cough -oedema -Jaundice -ascites"