Antitrypsin deficiency

• incidence: 1: 1,600–2,000;
• normal antitrypsin level is 1.5-3 g / l;
• It can manifest as neonatal hepatitis with cholestatic jaundice, chronic hepatitis or it can be asymptomatic;
• the most common metabolic cause of liver disease in children and early pulmonary emphysema in adult patients;
• there is no effective treatment, some patients require liver transplantation;
• prognosis - some are asymptomatic, others develop liver cirrhosis.

• Alpha 1 antitrypsin deficiency (video).

• 

  α-1-antitrypsin.

• 

  Játra u pacienta s deficitem α-1-antitrypsinu.

Links

Reference

Alpha-1 Antitrypsin Deficiency - NORD (National Organization for Rare Disorders). Home - NORD (National Organization for Rare Disorders) [online]. Copyright ©2021 NORD [cit. 26.03.2022]. Available from <https://rarediseases.org/rare-diseases/alpha-1-antitrypsin-deficiency/>

Alpha-1 antitrypsin deficiency: MedlinePlus Genetics. MedlinePlus - Health Information from the National Library of Medicine [online]. Copyright © 2009 Terese Winslow LLC for the National Cancer Institute [cit. 26.03.2022]. Available from <https://medlineplus.gov/genetics/condition/alpha-1-antitrypsin-deficiency/>