title: Alpha 1 antitrypsin deficiency in infants with neonatal cholestasis.
abstract: OBJECTIVE
  Alpha1-antitrypsin deficiency (A1ATD) is the most important indication for liver transplantation in children. The gene frequencies vary in different ethnic groups. In the present study, we attempt to determine the frequencies of the most common defective alleles, Z and S, in Iranian children suffering from idiopathic neonatal cholestasis. Eighty-seven infants were typed for Z and S alleles.
  
  
  METHODS
  In a single center study, 87 consecutive liver biopsies from infants with cholestasis were reviewed and patients with neonatal cholestasis enrolled in the study and cases with confirmed biliary tract atresia excluded. Formalin fixed paraffin embedded blocks were used for DNA extraction. AAT genotype was determined by polymerase chain reaction (PCR) assay and amplification of the two most common deficiency variants, S and Z alleles, and then sequencing of PCR products.
  
  
  RESULTS
  There were 48 (55.2%) males and 39 (44.8%) females, with a median age of 60 days. Out of 87 of the study subject, 2 (2.2%) were heterozygous for the S allele, and no ZZ, SS or MZ individual was found in the patients. No other polymorphism was found in the sequencing results.
  
  
  CONCLUSIONS
  In comparison to other populations, AAT deficiency seems not to be an important etiologic factor for neonatal cholestatic liver disease in Iran; however, further studies are recommended to estimate the true mutant gene frequencies.
authors.affiliation: Department of Pathology, Tehran University of Medical Sciences, Tehran, Iran ; Infectious Disease Research Center, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Maryam
authors.initials: M
authors.lastname: Monajemzadeh
authors.affiliation: Department of Pathology, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Reza
authors.initials: R
authors.lastname: Shahsiah
authors.affiliation: Department of Pathology, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Vasei
authors.affiliation: Department of Pathology, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Parin
authors.initials: P
authors.lastname: Tanzifi
authors.affiliation: Research Center for Immunodeficiencies, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran ; Department of Immunology, Molecular Immunology Research Center, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
authors.affiliation: Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran ; Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Mehri
authors.initials: M
authors.lastname: Najafi
authors.affiliation: Department of Pathology, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Narjes
authors.initials: N
authors.lastname: Soleimanifar
authors.affiliation: Department of Pathology, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Maryam
authors.initials: M
authors.lastname: Eghbali
keywords: Alpha1-antitrypsin Deficiency; Biopsy; Cholestasis; DNA Sequencing; Iran; Liver; PCR