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.

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 

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 