Abstract

Objective: Alpha-1 antitrypsin deficiency (AATD) is the most common genetic liver disorder in the children. We aimed to evaluate the clinical, laboratory and histopathological findings of the liver in children who referred for the liver dysfunction and diagnosed as AATD.

Material  and  Methods:  The  demographic,  clinical, laboratory,  histopathological  findings  and  genotypes of  the children, aged 0-18 years old and diagnosed as AATD in the department of Pediatric Gastroenterology, were evaluated retrospectively. The patients are divided into two groups as the patients who are homozygous for the ZZ allele (group 1) and the patients who have the other genotypes (group 2).

Results: The 20 children were diagnosed as AATD between June 1998 and June 2018. Phenotype or genotype tests were performed in 18 children; 7 children (35%) were homozygous for the ZZ allele, 7 children (35%) were heterozygous for the Z allele (MZ), a child was heterozygous for the S allele (MS), a child had MMalton allele, a child has Mduarte allele, a child had I allele. Serum A1AT level in the group 1 was lower than the group 2 (p=0,016). The other clinical and laboratory findings were not statistically different between the two groups. In the follow-up, liver transplantation was performed in two patients for the end-stage liver disease; one of them is heterozygous for the Z allele (MZ) and the phenotype or genotype tests could not be done in the other patient

Conclusion: Although AATD is an important cause of the liver disease in children, progressive liver disease develops in a small proportion of patients carrying the AATD mutation.

Keywords: Alpha-1 antitrypsin, Children, Phenotype, Genotype, Liver, SERPINA mutation

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Copyright and license

Copyright © 2019 The Author(s). This is an open access article distributed under the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.

How to cite

1.
Ünlüsoy Aksu A. The Liver Involvement and Genetics of Alpha-1 Antitrypsin Deficiency in the Children. Turk J Pediatr Dis [Internet]. 2019 Mar. 26 [cited 2025 Aug. 23];13(2):73-7. Available from: https://turkjpediatrdis.org/article/view/623