硫唑嘌呤片致TPMT基因突变患者骨髓抑制1例分析

doi:10.19803/j.1672-8629.20240451

中国药物警戒 ›› 2025, Vol. 22 ›› Issue (3): 337-340.
DOI: 10.19803/j.1672-8629.20240451

硫唑嘌呤片致TPMT基因突变患者骨髓抑制1例分析

胡琨^1,2, 黄卫国^1,3, 雷利利¹, 庞晓丛¹, 周颖^1,*, 崔一民^1,2,4

¹北京大学第一医院药剂科,北京 100034;
²北京大学医学部药学院,北京 100191;
³徐州医科大学药学院,江苏徐州 221004;
⁴北京大学临床药理研究所,北京 100191

收稿日期:2024-07-04 出版日期:2025-03-15 发布日期:2025-03-17
通讯作者: ^*周颖,女,硕士,主任药师,副教授•硕导,临床药学与临床药理学。E-mail: zhouying0321@126.com
作者简介:胡琨,女,在读博士,主管药师,临床药学。
基金资助:
中央高水平医院临床科研业务费资助（2023SF19）;国家自然科学基金资助项目（82274015）

One Case of Bone Marrow Suppression Caused by Azathioprine Tablets in a Patient with TPMT Heterozygous Mutation

HU Kun^1,2, HUANG Weiguo^1,3, LEI Lili¹, PANG Xiaocong¹, ZHOU Ying^1,*, CUI Yimin^1,2,4

¹Department of Pharmacy, Peking University First Hospital, Beijing 100034, China;
²Peking University School of Pharmaceutical Sciences, Peking University Health Science Center, Beijing 100191, China; 3School of Pharmacy, Xuzhou Medical University, Xuzhou Jiangsu 221004, China;
⁴Institute of Clinical Pharmacology, Peking University First Hospital, Beijing 100191, China

Received:2024-07-04 Online:2025-03-15 Published:2025-03-17

摘要/Abstract

摘要： 目的分析1例TPMT基因突变的患者应用硫唑嘌呤片发生骨髓抑制不良反应的病例,为安全用药提供参考。方法运用焦磷酸测序基因检测技术,结合国际指南及文献查询,分析1例患者应用硫唑嘌呤片发生骨髓抑制的原因。结果患者发生骨髓抑制不良反应怀疑是硫唑嘌呤片所致,患者TPMT*3C位点为*1/*3C杂合突变型,提示硫唑嘌呤片骨髓抑制不良反应风险高,应降低剂量并密切监测。予停用硫唑嘌呤片、对症治疗后27 d,骨髓抑制得以改善。结论 TPMT基因突变可导致硫唑嘌呤片不良反应风险增加,应用硫唑嘌呤片时应注意其不良反应风险,密切监测血液学及其他临床观测指标,有条件时应进行基因检测。

关键词: 硫唑嘌呤, 骨髓抑制, 基因多态性, TPMT, 突变, 药品不良反应, 安全性

Abstract: Objective To analyze the cause of bone marrow suppression in a patient with a TPMT gene mutation after treatment with azathioprine. Methods By using pyrophosphate sequencing genetic testing, international guidelines and literature review, the etiology of one case of bone marrow suppression was studied. Results The patient was identified as a heterozygote for the *1/*3C allele at the TPMT gene locus, which was associated with an elevated risk of azathioprine-induced bone marrow suppression. The patient was recommended to reduce the dosage of azathioprine and undergo vigilant monitoring. Upon cessation of azathioprine and initiation of symptomatic treatment, the bone marrow suppression of the patient improved after 27 days. Conclusion Mutations in TPMT can predispose individuals to heightened risks of adverse reactions to azathioprine. During azathioprine therapy, it is imperative to closely monitor hematological indices and other clinical parameters. When feasible, genetic testing should be conducted to preemptively gauge the risk of adverse reactions, thereby facilitating personalized medication adjustments to enhance treatment safety.

Key words: Azathioprine, Bone Marrow Suppression, Polymorphism, TPMT, Mutation, Adverse Drug Reaction, Safety

中图分类号:

胡琨, 黄卫国, 雷利利, 庞晓丛, 周颖, 崔一民. 硫唑嘌呤片致TPMT基因突变患者骨髓抑制1例分析[J]. 中国药物警戒, 2025, 22(3): 337-340.

HU Kun, HUANG Weiguo, LEI Lili, PANG Xiaocong, ZHOU Ying, CUI Yimin. One Case of Bone Marrow Suppression Caused by Azathioprine Tablets in a Patient with TPMT Heterozygous Mutation[J]. Chinese Journal of Pharmacovigilance, 2025, 22(3): 337-340.

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硫唑嘌呤片致TPMT基因突变患者骨髓抑制1例分析

One Case of Bone Marrow Suppression Caused by Azathioprine Tablets in a Patient with TPMT Heterozygous Mutation

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