卡马西平致中毒性表皮坏死松解症伴HLA-A*31:01阳性一例

【摘要】 目的 探讨1例卡马西平致中毒性表皮坏死松解症（TEN）的易感基因类型。方法 收集1例由卡马西平诱发的TEN患者临床资料，抽外周血提取DNA，应用荧光染色原位杂交技术检测卡马西平易感基因位点HLA-A*31:01（rs1633021）、HLA-B*58:01（rs3095318）、HLA-B*15:02（rs3909184）和HLA-B*15:02（rs2844682）。结果 患者女，40岁，汉族，因口周红斑水疱7 d，泛发全身4 d就诊。患者出现皮损前曾应用卡马西平1个月。基因检测显示，HLA-B*15:02阴性，HLA-A*31:01阳性。结论 本例中国汉族卡马西平致TEN患者HLA-A*31:01阳性。

Carbamazepine-induced toxic epidermal necrolysis in a patient with HLA-A*31:01 allele

【Abstract】 Objective To detect susceptibility genes for toxic epidermal necrolysis （TEN） caused by carbamazepine in a patient. Methods Clinical data and peripheral blood samples were collected from a patient with carbamazepine-induced TEN. DNA was extracted from the peripheral blood sample, fluorescence in situ hybridization was performed to detect susceptibility gene loci for carbamazepine-induced TEN, including HLA-A*31:01（rs1633021）, HLA-B*58:01（rs3095318）, HLA-B*15:02（rs3909184）and HLA-B*15:02 （rs2844682）. Results The 40-year-old female patient of Han nationality presented with perioral erythema andblisters for 7 days, which had spread all over the body for 4 days. The patient had been treated with carbamazepine for 1 month before the occurrence of skin lesions. Genetic testing showed that the patient was negative for HLA-B*15:02 allele, but positive for HLA-A*31:01 allele. Conclusion The Chinese patient of Han nationality with carbamazepine-induced TEN was positive for HLA-A*31:01 allele.