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
BENEŠ, Jiří. Studijní materiály [online]. [cit. 2010]. < http://jirben.wz.cz >. HRODEK, Otto a Jan VAVŘINEC, et al. ''Pediatrie. ''1. vydání. Praha : Galén, 2002. ISBN 80-7262-178-5. ŠAŠINKA, Miroslav, Tibor ŠAGÁT a László KOVÁCS, et al. ''Pediatria. ''2. vydání. Bratislava : Herba, 2007. ISBN 978-80-89171-49-1.