Liver presentation of alfa-1-antytrypsin deficiency
Journal Title: Postępy Nauk Medycznych - Year 2010, Vol 23, Issue 1
Abstract
a1-antitrypsin deficiency (a1-ATD) is a hereditary, metabolic disorder that may predispose to chronic obstructive pulmonary disease (COPD) in adults or liver disease in children and adults. In most of the patients the disease does not cause any symptoms or there is only mild clinical presentation. The liver disease may present at the age of 4-8 weeks as a prolonged jaundice or neonatal hepatitis. It is the major cause of liver transplantation among hereditary diseases and the second cause in total after biliary atresia. The decrease of a1 AT serum concentration below 0.5 g/L (11 mM) is an indication for further diagnostic work up- phenotyping or genotyping. The risk of developing liver disease was seen only in Pi ZZ phenotype (estimated to be about 10%). The liver transplantation improved the prognosis and is the only method of definite treatment. Promising treatments include gene therapy, transplantation of hepatocytes, which are still experimental methods.Chronic lung disease is the most common presentation in adulthood. Liver cirrhosis, hepatitis, hepatocarcinoma may develop in later age without any features of liver injury in childhood. There are several hypothesis concerning pathophysiology of liver injury, but the mechanisms are still not clear. The course of liver disease due to Pi ZZ phenotype in children is unpredictable. From the clinical point of view it is important to know which patients may deteriorate and shall be followed carefully to make right decisions on liver transplantation.
Authors and Affiliations
Agnieszka Bakuła, Piotr Socha
Keywords
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