Art and Design / MRP / Volume 2 / Issue 6 / DOI: 10.61369/MRP.6916
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ARTICLE

抗癫痫治疗引发药物过敏的遗传因素分析

春燕 房1 欣 陈3 桂英 秦2 鑫锐 杨4 雯 杨5
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1 1.2 山东第二医科大学附属诸城市人民医院, 1.2 山东第二医科大学附属诸城市人民医院
2 3.4.5 昆明金域医学检验所, 3.4.5 昆明金域医学检验所
MRP 2024 , 2(6), 5–7;
Published: 20 June 2024
© 2024 by the Author. Licensee Art and Design, USA. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution -Noncommercial 4.0 International License (CC BY-NC 4.0) ( https://creativecommons.org/licenses/by-nc/4.0/ )
Abstract

本文对一例抗癫痫药物奥卡西平过敏反应患者进行遗传因素分析,以了解其过敏发生的遗传机制。通过PCR-SBT和MassARRAY 检测出患者携带HLA-A*24:02、HLA-B*13:01、HLA-B*51:01等位基因,CYP3A5*3杂合变异、ABCB1 rs1045642 位点 G杂合变异。此结果提示多重药物代谢相关变异的累加效应可能是患者抗癫痫药物奥卡西平过敏的遗传因素。因此,在临床实践中,医生应充分考虑患者的遗传背景,结合患者的具体情况,制定个性化的治疗方案,以实现临床合理用药。

Keywords
抗癫痫药物,药物过敏,遗传因素,临床合理用药
References

[1] Then S , Raymond A .An update on HLA alleles as pharmacogenetic markers for antiepileptic drug-induced cutaneous adverse reaction[J].Neuroscience Research Notes, 2019.DOI:10.31117/NEUROSCIRN.V2I2.29.
[2] Micheletti RG, Chiesa-Fuxench Z, Noe MH, et al. Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis: A Multicenter Retrospective Study of 377 Adult Patients from the United States. J Invest Dermatol 2018: 138: 2315-21.
[3] Roujeau JC, Stern RS. Severe adverse cutaneous reactions to drugs. N Engl J Med 1994:331: 1272-85.
[4] Chung WH, Chang WC, Lee YS, et al. Genetic variants associated with phenytoin-related severe cutaneous adverse reactions. JAMA 2014: 312: 525-34.
[5] Kesavan R, Narayan SK, Adithan C. Influence of CYP2C9 and CYP2C19 genetic polymorphisms on phenytoin-induced neurological toxicity in Indian epileptic patients. Eur J Clin Pharmacol 2010: 66: 689-96.
[6] Kerr H, Wong E, Makou E, et al. Disease-linked mutations in factor H reveal pivotal role of cofactor activity in self-surface-selective regulation of complement activation. J Biol Chem 2017: 292: 13345-60.
[7] McCormack M, Gui H, Ingason A, et al. Genetic variation in CFH predicts phenytoin induced maculopapular exanthema in European-descent patients. Neurology 2018: 90: e332-e41.
[8] 廖卫平.抗癫痫药物所致不良反应的研究进展[J].癫痫杂志,2019(004):005.
[9] Hung SI, Chung WH, Liu ZS, et al. Common risk allele in aromatic antiepileptic-drug induced Stevens-Johnson syndrome and toxic epidermal necrolysis in Han Chinese. Pharmacogenomics 2010: 11: 349-56.
[10] Chen CB, Hsiao YH, Wu T, et al. Risk and association of HLA with oxcarbazepine induced cutaneous adverse reactions in Asians. Neurology 2017: 88: 78-86.
[11] Ozeki T, Mushiroda T, Yowang A, et al. Genome-wide association study identifies HLA A*3101 allele as a genetic risk factor for carbamazepine-induced cutaneous adverse drug reactions in Japanese population. Hum Mol Genet 2011: 20: 1034-41.
[12] Cheung YK, Cheng SH, Chan EJ, Lo SV, Ng MH, Kwan P. HLA-B alleles associated with severe cutaneous reactions to antiepileptic drugs in Han Chinese. Epilepsia 2013:54: 1307-14.
[13] Zhou B T , Zhou Q H , Yin J Y ,et al.Effects of SCN1A and GABA receptor genetic polymorphisms on carbamazepine tolerability and efficacy in Chinese patients with partial seizures: 2-year longitudinal clinical follow-up.[J].Cns Neuroscience&Therapeutics,2012,18(7):566-572.DOI:10.1111/j.1755-5949.2012.00321.x.
[14] Niihara H , Kakamu T , Fujita Y ,et al.HLA-A31 strongly associates with carbamazepine-induced adverse drug reactions but not with carbamazepine-induced lymphocyte proliferation in a Japanese population.[J].JournalofDermatology,2012,39(7):594-601.DOI:10.1111/j.1346-8138.2011.01457.x.
[15] Whirl-Carrillo M, Huddart R, Gong L, et al. An Evidence-Based Framework for Evaluating Pharmacogenomics Knowledge for Personalized Medicine[J]. Clin Pharmacol Ther. 2021;110(3):563-572. DOI:10.1002/cpt.2350
[16] Ramírez E, Bellón T, Tong HY, et al. Significant HLA class I type associations with aromatic antiepileptic drug (AED)-induced SJS/TEN are different from those found for the same AED-induced DRESS in the Spanish population[J]. Pharmacol Res. 2017;115:168-178. DOI:10.1016/j.phrs.2016.11.027
[17] Nakkam N, Konyoung P, Amornpinyo W, et al. Genetic variants associated with severe cutaneous adverse drug reactions induced by carbamazepine[J]. Br J Clin Pharmacol. 2022;88(2):773-786. DOI:10.1111/bcp.15022
[18] Effects of CYP3A4/5 and ABCB1 genetic polymorphisms on carbamazepine metabolism and transport in Chinese patients with epilepsy treated with carbamazepine in monotherapy and bitherapy[J].Epilepsy Research, 2015, 117:52-57.DOI:10.1016/j.eplepsyres.2015.09.001.

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Medical Research and Practice, Electronic ISSN: 2993-9704 Print ISSN: 2993-9690, Published by Art and Design