Alpha<inf>1</inf>-antitrypsin phenotype of children with liver diseases in Thailand

Abstract

Alpha1-antitrypsin deficiency (PiZZ) constitutes not only the most common hereditary cause of liver diseases, but also of the most prevalent metabolic diseases in need of liver transplantation. It is a codominantly inherited disorder which predisposes to chronic liver disease, usually beginning in early infancy. The purpose of the present study has been to investigate α1-antitrypsin phenotype in pediatric patients with various liver diseases. Phenotypic identification of α1-antitrypsin variants has been carried out in 69 children with various liver diseases and 100 healthy controls using isoelectric focusing on polyacrylamide gel slabs. PiMM represents the most common phenotype detected in both groups (92% in the group with liver diseases and 88% in normal controls). We could detect PiZZ in only one healthy child but in none of those with liver diseases. Consequently α1-antitrypsin deficiency does not appear to be a common cause for liver disease among children in Thailand. Further studies are necessary to elucidate the frequency of various α1-antitrypsin variants and the clinical relevance with respect to liver diseases in Thailand.