探索1例依非韦伦相关药物性肝损伤的遗传代谢因素

Exploring the genetic and metabolic factors of a case of efavirenz-related drug-induced liver injury

目的探索1例依非韦伦(EFV)相关药物性肝损伤的获得性免疫缺陷综合征(AIDS)患者在停药2个月后仍进展为重度肝炎的遗传代谢因素。方法回顾性分析该院收治的1例已接受2个月EFV治疗(600 mg/d,口服)且停药后仍进展为重度肝炎的AIDS患者资料,对其细胞色素氧化酶P450亚型CYP2B6基因的外显子进行一代测序。结果患者CYP2B6基因存在c.516G>T的杂合变异。结论CYP2B6基因c.516G>T的杂合变异患者高剂量服用EFV可进展为重度肝炎,临床需重视患者基因型并个性化给药。

Objective To explore the genetic and metabolic factors of severe hepatitis progression in an acquired immune deficiency syndrome(AIDS)patient with efavirenz-related(EFV)drug-induced liver injury after two months of the drug withdrawal.Methods The retrospective analysis was performed on the data of an AIDS patient who had been treated with EFV for two months(600 mg/d,orally)and still progressed to severe hepatitis after the drug withdrawal,and the exon of cytochrome oxidase P450 subtype CYP2B6 gene was detected by the first generation sequencing.Results The CYP2B6 gene of the patient had heterozygous variation of c.516G>T.Conclusion Patients with heterozygous variation of CYP2B6 gene c.516G>T can progress to severe hepatitis after high-dose administration of EFV.Clinical attention should be paid to the genotype of patients and personalized drug administration.