Mostafa A El-Hodhod^1,2, Marwa T El-Deeb³, Yosra M Mohsen⁴, Nada A Abd El-Hafez⁵ and Nora N Esmaiel⁶*

¹Professor of Pediatric Gastroenterology and Endoscopy Department, Faculty of Medicine, Ain Shams University, Cairo 11535, Egypt
²Dean of Faculty of Medicine, October 6 University, Giza 12511, Egypt
³Professor of Paediatrics, Faculty of Medicine, Ain shams university, Cairo, Egypt
⁴Assistant Professor of Paediatrics, Faculty of Medicine, Ain shams university, Cairo, Egypt
⁵Faculty of Medicine, Ain Shams University, Cairo, Egypt
⁶Associate Professor of Medical Molecular Genetics, Molecular Genetics and Enzymology Department, Human Genetics and Genome Research Institute, National Research Centre, Giza, Egypt

*Corresponding Author: Nora N Esmaiel, Associate Professor of Medical Molecular Genetics, Molecular Genetics and Enzymology Department, Human Genetics and Genome Research Institute, National Research Centre, Giza, Egypt.

Received: November 18, 2024; Published: December 05, 2024

Abstract

Background: Inflammatory Bowel Disease (IBD) is a serious disease as well as the drugs used to treat it including azathioprine (AZA). Polymorphism of thiopurine S-methyl transferase enzyme (TPMT) gene has been reported to cause fatal complications in patients treated with AZA.

Aim of Work: The aim is to detect frequency and mutation of variants of TPMT and correlate the presence of side effects to the TPMT profile.

Materials and Methods: This cross sectional study included 19 IBD patients, with an age range of 6-17 years. They were 11 Crohn’s disease patients and 8 ulcerative colitis patients. Complete blood count, alanine transferase (ALT), aspartate transferase (AST), ESR, CRP were done on initiation of AZA, at 2,4,16 weeks and at 7 months. Thiopurine methyl transferase (TPMT) genotyping was done (TPMT*2, TPMT*3A, TPMT*4A, TPMT*B and TPMT*3C).

Results: Variants of TPMT were wild type (100%). Myelosuppression was found in 10.5% of cases, hepatotoxicity in 21% of cases that proved on further investigations to be due to viral hepatitis.

Conclusion: Follow up of liver functions, CBC can be sufficient in IBD Egyptian children on AZA and can replace need for genotyping. Viral hepatitis is an important cause of elevated liver enzymes in IBD patients.

 Keywords: AZA; TPMT; Inflammatory Bowel Disease

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Citation

Citation: Nora N Esmaiel., et al. “Thiopurine S-Methyltransferase Genotype Mutation in Pediatric Patients with Inflammatory Bowel Disease on Azathioprine: A Pilot Study”.Acta Scientific Medical Sciences 9.1 (2025): 03-10.

Copyright

Copyright: © 2025 Nora N Esmaiel., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.