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).

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  α-1-antitrypsin.

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  Játra u pacienta s deficitem α-1-antitrypsinu.

Links

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.