title: Low incidence of alpha-1-antitrypsin deficiency in Iranian patients with neonatal cholestasis.
abstract: OBJECTIVE
  There is little data concerning the incidence of alpha-1-antitrypsin"(AAT) deficiency, the most common genetic cause of liver disease, among children with neonatal cholestasis in Iran. Thus, this study was performed to analyze AAT deficiency in this group of patients.
  
  
  METHODS
  DNA samples from patients with neonatal cholestasis were investigated for Pi S and Pi Z alleles, using polymerase chain reaction-restriction fragment length polymorphism.
  
  
  RESULTS
  Thirty patients with neonatal cholestasis were enrolled. Among those who underwent biopsies, the results revealed neonatal hepatitis in 19, bile duct paucity in 1, steatohepatitis in 1, bile duct proliferation in 1, cirrhosis in 2, fibrosis in 2, and extrahepatic biliary atresia in 1 patient. No mutant allele was found in any patient.
  
  
  CONCLUSIONS
  The incidence of AAT deficiency is very low in Iran; therefore, screening for AAT is not recommended for patients with neonatal cholestasis in Iran.
authors.affiliation: Department of Pediatrics, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. dr_f_motamed@yahoo.com.
authors.forename: Farzaneh
authors.initials: F
authors.lastname: Motamed
authors.forename: Sanaz
authors.initials: S
authors.lastname: Mehrabani
authors.forename: Maryam
authors.initials: M
authors.lastname: Monajemzadeh
authors.forename: Mohammad Taghi
authors.initials: MT
authors.lastname: Haghi Ashtiani
authors.forename: Sima
authors.initials: S
authors.lastname: Hosseinverdi
authors.forename: Masoud
authors.initials: M
authors.lastname: Houshmand
authors.forename: Omid
authors.initials: O
authors.lastname: Aryani
authors.forename: Mehri
authors.initials: M
authors.lastname: Najafi
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Farahmand
authors.forename: Mohammad Ali
authors.initials: MA
authors.lastname: Kiani
authors.forename: Ahmad
authors.initials: A
authors.lastname: Khodadad
authors.forename: Gholam Hossein
authors.initials: GH
authors.lastname: Fallahi
authors.forename: Gholamreza
authors.initials: G
authors.lastname: Khatami
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
mesh_terms: D016738:Alagille Syndrome / Q000453:epidemiology / Q000209:etiology; D001652:Bile Ducts / Q000503:physiopathology; D001656:Biliary Atresia / Q000453:epidemiology / Q000209:etiology; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D002779:Cholestasis / Q000097:blood / Q000150:complications* / Q000235:genetics; D005234:Fatty Liver / Q000453:epidemiology / Q000209:etiology; D005260:Female; D006505:Hepatitis / Q000453:epidemiology / Q000209:etiology; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D007492:Iran / Q000453:epidemiology; D008099:Liver / Q000473:pathology; D008103:Liver Cirrhosis / Q000453:epidemiology / Q000209:etiology; D008297:Male; D010641:Phenotype; D019896:alpha 1-Antitrypsin Deficiency / Q000453:epidemiology* / Q000235:genetics