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目的探讨奥卡西平诱发的Stevens-Johnson综合征(SJS)的临床特点及易感基因HLA-B*1502基因检测的意义。方法回顾性分析1例由奥卡西平诱发的SJS患儿的临床表现、实验室检查以及基因学检测特点,同时对SJS的流行病学、病因学及发病机制等相关文献进行复习,尤其是对芳香族抗癫药物诱发SJS的基因学研究进行分析。结果本文1例继发性癫患儿在奥卡西平加量治疗过程中出现发热、皮疹,进而发展至大疱及脓疱,并出现表皮松弛脱落。实验室检查结果提示外周血白细胞增多、红细胞沉降率升高、ALT升高(337 U·L-1)、AST升高、尿蛋白++。结合该患儿的临床资料判断皮损为奥卡西平所致。利用基因学检测提示HLA-B*1502阳性。该患儿停用奥卡西平后改为托吡酯等治疗,住院2周后体温正常,皮疹消退,临床痊愈出院。结论奥卡西平诱发的SJS是临床少见的严重药物不良反应,典型的临床表现为严重的皮损、发热及内脏器官损害,基因学检查显示该药物不良反应和HLA-B*1502基因呈显著相关,对HLA-B*1502易感基因进行检测可预测芳香族抗癫药物诱发的此项不良反应。
Objective To investigate the clinical characteristics of Stevens-Johnson syndrome (SJS) induced by oxcarbazepine and the significance of HLA-B * 1502 gene detection. Methods A retrospective analysis of 1 case of oxcarbazepine-induced SJS children with clinical manifestations, laboratory tests and genetic testing characteristics, and SJS epidemiology, etiology and pathogenesis and other related literature review, especially for Aromatic antiepileptic drugs induced SJS genetic studies were analyzed. Results In this paper, a case of secondary epilepsy in oxacillin plus treatment during fever, rash, and then developed to the big blisters and pustules, and epidermal flaccid off. The results of laboratory tests showed that peripheral blood leucocytes increased, erythrocyte sedimentation rate increased, ALT increased (337 U · L-1), AST increased, urinary protein ++. Combined with the clinical data of children to determine the skin lesions caused by oxcarbazepine. The use of genetic tests suggest that HLA-B * 1502-positive. After the patient discontinued oxcarbazepine to topiramate and other treatment, normal body temperature after 2 weeks of hospitalization, rash subsided, the clinical recovery. Conclusions Oxalic acid-induced SJS is a rare clinical serious adverse drug reaction. The typical clinical manifestations are severe skin lesions, fever and visceral organ damage. The genetic tests showed that the side effects of this drug were significantly associated with the HLA-B * 1502 gene , The detection of HLA-B * 1502 susceptibility genes predicts this adverse reaction induced by aromatic antiepileptic drugs.