Transpl Int 2000;13(3):207-10

Liver transplantation for alpha-1-antitrypsin deficiency in children

Prachalias AA, Kalife M, Francavilla R, Muiesan P, Dhawan A, Baker A, Hadzic D,
Mieli-Vergani G, Rela M, Heaton ND

Abstract
Alpha-1-antitrypsin (a1-AT) deficiency is an inborn error of metabolism, which
can cause liver disease. The condition is one of the most common genetic
disorders in the Caucasian population. Here we review our experience with 21
children suffering from end-stage liver disease due to a1-AT deficiency. All
children are PIZZ homozygotes. Nineteen of them initially presented with
neonatal jaundice and two with hepatosplenomegaly in childhood. Twenty-five
liver transplantions were performed. All children are currently alive at a
median followup of 40 months. Liver replacement provides the only definite
treatment for children with end-stage liver disease associated with a1-AT
deficiency. Excellent results can be achieved by reducing waiting time for
transplantation and by early referral to a liver transplant centre