title: A rare variant of α 1 antitrypsin mutations detected in Vietnamese children with liver disease.
abstract: BACKGROUND
  Alpha 1 antitrypsin (A1AT) is the major plasma serine protease inhibitor that is produced in liver cells. A1AT deficiency is recognized globally as a common genetic cause of liver disease in children, which results from mutations in the SERine Protease INhibitor A1 (SERPINA1) gene. The importance of A1AT deficiency in Viet Nam is unclear. The aim of this study was to determine the A1AT variants present in paediatric patients with liver diseases in order to clarify whether A1AT deficiency is present in Viet Nam.
  
  
  METHODS
  A1AT studies were carried out in 130 children with liver disease of indeterminate aetiology. A1AT levels were determined by immunoturbidimetry. Phenotype analysis of A1AT was performed by isoelectric focusing (IEF) in all patients. Genotype analyses to determine A1AT mutations were performed by direct sequencing.
  
  
  RESULTS
  We identified a rare variant of A1AT named Zbristol. The Zbristol appeared to be deficient in the plasma to about the same degree as the PI S protein resulting in low concentration of A1AT in one of these two Vietnamese patients. No other deficient A1AT allele was detected, although 11 patients (8.5%) showed a reduced serum concentration of A1AT.
  
  
  CONCLUSIONS
  These are the first two cases of a rare A1AT deficiency allele to be found in Viet Nam clearly inferring that A1AT deficiency is not just a disease of Caucasians. As such, the laboratory diagnosis of A1AT deficiency including A1AT concentration determination and phenotype and genotype testing should form part of the routine differential diagnosis of paediatric liver disease of indeterminate aetiology in Vietnamese patients.
authors.affiliation: Biochemistry Department, Saint Paul General Hospital, Ha Noi, Viet Nam. thuhavacb@gmail.com
authors.forename: Thu Hà
authors.initials: TH
authors.lastname: Hoàng
authors.forename: Thiên Ngọc
authors.initials: TN
authors.lastname: Phạm
authors.forename: Gia Khánh
authors.initials: GK
authors.lastname: Nguyễn
authors.forename: Quang Huấn
authors.initials: QH
authors.lastname: Lê
mesh_terms: D044466:Asian People / Q000235:genetics*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008107:Liver Diseases / Q000175:diagnosis / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D000515:alpha 1-Antitrypsin / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency / Q000175:diagnosis / Q000235:genetics*
chemical_list: D000515:alpha 1-Antitrypsin
keywords: Alpha 1 antitrypsin; Vietnamese children; Zbristol variant; liver disease