临床患者检测卡马西平药物基因位点在预防Steven-Johnson综合征和中毒性表皮坏死松解症中的应用  

Clinical Application of Carbamazepine Drug Gene Locus in the Prevention of Steven-Johnson Syndrome and Toxic Epidermal Necrolysis

作　　者：程晓东 张莹 胡玉皎 王昊 周铁成 郝晓柯 CHENG Xiao-dong;ZHANG Ying;HU Yu-jiao;WANG Hao;ZHOU TiE-cheng;HAO Xiao-ke(Center of Clinical Laboratory Medicine,the First Affiliated Hospital of Air Force Medical University,Xi'an 710032,China)

机构地区：[1]空军军医大学第一附属医院全军临床检验中心

出　　处：《现代检验医学杂志》2019年第4期15-17,共3页Journal of Modern Laboratory Medicine

摘　　要：目的检测卡马西平药物的耐药位点,为使用卡马西平药物治疗的患者提供精准的用药指导,避免Steven-Johnson综合征和中毒性表皮坏死松解症的出现。方法收集148例血液样本,使用荧光探针原位杂交技术对卡马西平药物的耐药位点HLA-B*1502TA(C>G)和HLA-B*1502TB(C>T)进行检测和结果分析,评估不同患者卡马西平药物使用的可行性。结果 148例患者中,HLA-B*1502 TA(C>G)位点检测结果为CC(野生型)的患者126例(85.14%),检测结果为CG(杂合突变型)的患者21例(14.19%),检测结果为GG(纯合突变型)的患者1例(0.67%);HLA-B*1502TB(C> T)位点检测结果为CC(野生型)的患者109例(73.65%),检测结果为CT(杂合突变型)的患者37例(25.00%),检测结果为TT(纯合突变型)的患者2例(1.35%)。39.19%(58/148)的患者使用卡马西平有出现Steven-Johnson综合征和中毒性表皮坏死松解症的风险。结论在使用卡马西平治疗前给患者作卡马西平化学药物基因检测,根据检测结果合理精准用药,可使39.19%患者避免出现Steven-Johnson综合征和中毒性表皮坏死松解症的风险,为患者提供安全用药指导。Objective To detect the drug resistance site of carbamazepine and provide accurate medication guidance for patients treated with carbamazepine to avoid the occurrence of Steven-Johnson syndrome and toxic epidermal necrolysis.Methods A total of 148 blood samples were collected and the carbamazepine-resistant sites HLA-B*1502 TA(C>G) and HLA-B*1502 TB(C>T) were detected and analyzed by fluorescence probe in situ hybridization.To assess the use of carbamazepine in different patients.Results Of the 148 patients,126(85.14%) patients with HLA-B*1502 TA(C>G) were found to have CC,and 21 patients(14.19%) with CG,one patient(0.67%) with GG,and 109 patients(73.65%) with HLA-B*1502 TB(C>T) site test results for CC,37 patients(25.00%) with CT,and 2 patients(1.35%) with TT.39.19%(58/148) of patients had a risk of developing Steven-Johnson syndrome and toxic epidermal necrolysis using carbamazepine.Conclusion Before the treatment with carbamazepine,the carbamazepine chemotherapeutic gene test was performed in patients.According to the results of reasonable and accurate drug use,39.19% of patients can avoid the risk of Steven-Johnson syndrome and toxic epidermal necrolysis.Patients provide safe medication guidance.

关 键 词：卡马西平 STEVEN-JOHNSON综合征 中毒性表皮坏死松解症 HLA-B*1502TA(C>G) HLA-B*1502TB(C>T) 

分 类 号：R394.6[医药卫生—医学遗传学] R758.2[医药卫生—基础医学]