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KMID : 1100820220120040217
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Laboratory Medicine Online
2022 Volume.12 No. 4 p.217 ~ p.226
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NUDT15 Genotyping in Thiopurine Drug Therapy
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Lee Jong-Kwon
Choi Ri-Hwa
Lee Soo-Youn
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Abstract
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Thiopurine is a pro-drug used to treat patients with inflammatory bowel disease, leukemia, malignancies, and autoimmune diseases as well as an immunosuppressive agent for post-transplantation states. Thiopurine drugs are metabolized into active metabolites by enzymes in various metabolic stages in the body. The importance of NUDT15 genotyping is emerging in the literature and clinical guidelines since it has been found to be associated with fatal thiopurine-related adverse drug reactions such as cytopenia, hepatotoxicity, and hair loss. Therefore, this review provides practical information about the clinical pharmacogenetic test for NUDT15 in patients treated with thiopurines to assist clinical laboratories in Korea. It focuses on thiopurine drug metabolism, clinical implications, and of NUDT15 genotyping. Moreover, it considers reports of pharmacogenetic test results, including current recommendations on NUDT15-guided thiopurine dosing.
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KEYWORD
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Pharmacogenetics, NUDT15, Genotype, Thiopurine, Guideline
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