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Low Incidence of Alpha 1 Antitrypsin Deficiency in Iranian Patients With Neonatal Cholestasis Publisher Pubmed



Motamed F1 ; Mehrabani S1 ; Monajemzadeh M1 ; Ashtiani MTH1 ; Hosseinverdi S2 ; Houshmand M3 ; Aryani O3 ; Najafi M1 ; Farahmand F1 ; Kiani MA1 ; Khodadad A1 ; Fallahi GH1 ; Khatami G1 ; Rezaei N2, 4, 5
Authors
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Authors Affiliations
  1. 1. Department of Pediatrics, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  3. 3. Department of Medical Genetics, Special Medical Center, Tehran, Iran
  4. 4. Department of Immunology, Molecular Immunology Research Center and Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  5. 5. Universal Scientific Education and Research Network (USERN), Tehran, Iran

Source: Turkish Journal of Gastroenterology Published:2015


Abstract

Background/Aims: There are few data concerning the incidence of alpha 1 antitrypsin (AAT) deficiency, a 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. Materials and Methods: DNA samples from 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 case. Conclusion: The incidence of AAT deficiency is very low in our region; therefore, screening for AAT is not recommended as a cause of neonatal cholestasis in Iran. © Copyright 2015 by The Turkish Society of Gastroenterology.