Liver transplantation for alpha-1-antitrypsin deficiency in children

Alpha-1-antitrypsin (a1-AT) deficiency is an inborn error of metabolism, wh ich can cause liver disease. The condition is one of the most common geneti c disorders in the Caucasian population. Here we review our experience with 21 children suffering from end-stage liver disease due to al-AT deficiency , All children are PIZZ homozygotes. Nineteen of them initially presented w ith neonatal jaundice and two with hepatosplenomegaly in childhood. Twenty- five liver transplantations were performed. All children are currently aliv e at a median follow-up of 40 months. Liver replacement provides the only d efinite treatment for children with end-stage liver disease associated with al-AT deficiency. Excellent results can be achieved by reducing waiting ti me for transplantation and by early referral to a liver transplant centre.