Turkish Journal of Gastroenterology
Original Article

Low incidence of alpha-1-antitrypsin deficiency in Iranian patients with neonatal cholestasis

1.

Department of Pediatrics, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran

2.

Research Center for Immunodeficiencies, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran

3.

Department of Medical Genetics, Special Medical Center, Tehran, Iran

4.

Research Center for Immunodeficiencies, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Universal Scientific Education and Research Network (USERN), Tehran, Iran

Turk J Gastroenterol 2015; 26: 251-253
DOI: 10.5152/tjg.2015.6339
Read: 477 Downloads: 53 Published: 25 July 2019

Abstract

Background/Aims: 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.

 

Materials and 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.

 

Conclusion: The incidence of AAT deficiency is very low in Iran; therefore, screening for AAT is not recommended for patients with neonatal cholestasis in Iran.

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EISSN 2148-5607