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Alpha 1-antitrypsin phenotype of children with liver diseases in Thailand
V Chongsrisawat1, P Jantaradsamee, B Vivatvakin
1Department of Pediatrics, Faculty of Medicine, Chulalongkorn University and Hospital, Bangkok, Thailand.
Insights
Alpha1-antitrypsin deficiency (PiZZ) is a genetic liver disease. This study found PiZZ was not a common cause of pediatric liver disease in Thailand, with PIMM being the most frequent phenotype.
Area of Science:
- Hepatology
- Genetics
- Pediatrics
Background:
- Alpha1-antitrypsin deficiency (PiZZ) is a leading hereditary cause of liver disease and a common indication for liver transplantation.
- It is an inherited disorder that can lead to chronic liver disease, often presenting in infancy.
Purpose of the Study:
- To investigate the prevalence of alpha 1-antitrypsin (AAT) phenotypes in pediatric patients diagnosed with various liver diseases.
- To determine if AAT deficiency is a significant factor in childhood liver disease within the Thai population.
Main Methods:
- Phenotypic identification of alpha 1-antitrypsin variants was performed using isoelectric focusing on polyacrylamide gel slabs.
- The study included 69 children with liver diseases and 100 healthy children as controls.
Main Results:
- The PIMM phenotype was the most common, observed in 92% of children with liver diseases and 88% of healthy controls.
- The PiZZ phenotype, associated with AAT deficiency, was found in only one healthy child and none of the children with liver diseases.
Conclusions:
- Alpha1-antitrypsin deficiency (PiZZ) does not appear to be a frequent cause of liver disease among children in Thailand.
- Further research is needed to understand the spectrum of AAT variants and their specific roles in liver diseases within 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 alpha 1-antitrypsin phenotype in pediatric patients with various liver diseases. Phenotypic identification of alpha 1-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 alpha 1-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 alpha 1-antitrypsin variants and the clinical relevance with respect to liver diseases in Thailand.