Abstract

Background: The aim of the study was to present the clinical characteristics and diagnostic problems in infants with aqlpha -1-antitrypsin (alpha -1-AT) deficiency. Material/Methods:8 children aged from 10 days to 12 weeks were analysed with alpha -1-AT deficiency ascertained by nephelometric method and other causes of cholestasis and liver lesion excluded by means of differential diagnostics. Results/Conclusions: It was ascertained that cholestatic jaundice and symptoms of haemorrhagic defect were the most frequent symptoms of alpha -1-AT deficiency in analysed children. 1. diagnosis of alpha -1-AT deficiency obliges to perform screening tests in siblings with cholestasis 2. alpha -1-AT deficiency may coexist with other causes of cholestasis. 3. differential diagnostics with inborn atresia of bile-ducts may cause substantial difficulties.

Keywords: Cholestasis, children, alfa -1-antitrypsin, hepatic cirrhosis