Alpha 1 Antitrypsin Deficiency in Infants with Neonatal Cholestasis

Maryam Monajemzadeh; Reza Shahsiah; Mohammad Vasei; Parin Tanzifi; Nima Rezaei; Mehri  Najafi; Narjes Soleimanifar; Maryam Eghbali

Innovative Journal of Pediatrics

The Scientific Journal of Growth & Development Research Center

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Alpha 1 Antitrypsin Deficiency in Infants with Neonatal Cholestasis

Author(s):

Maryam Monajemzadeh^1,*,

Reza Shahsiah²,

Mohammad Vasei³,

Parin Tanzifi⁴,

Nima Rezaei⁵,

Mehri Najafi⁶,

Narjes Soleimanifar⁷,

Maryam Eghbali⁸

Innovative Journal of Pediatrics:Vol. 23, issue 5; 501-507

Published online:Jul 21, 2013

Article type:Research Article

Received:Jan 10, 2013

Accepted:May 21, 2013

How to Cite:Maryam Monajemzadeh, Reza Shahsiah, Mohammad Vasei, Parin Tanzifi, Nima Rezaei, et al. Alpha 1 Antitrypsin Deficiency in Infants with Neonatal Cholestasis.Inn J Pediatr.2013;23(5):501-507.

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. Findings: 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. Conclusion: 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.

Keywords

Alpha1-antitrypsin Deficiency

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