ABCB1 rs1045642 T/T基因型儿童应用伏立康唑致皮肤光敏反应1例并文献复习

Skin photosensitivity induced by Voriconazole in children with ABCB1 rs1045642 T/T genotype:a case report and literature review

回顾性分析2020年9月首都医科大学附属北京儿童医院收治的1例ABCB1 rs1045642 T/T基因型患儿服用伏立康唑治疗后出现皮肤光敏反应的临床资料,并复习相关文献,对ABCB1基因多态性与伏立康唑药代动力学相关性进行讨论。患儿,男,6.8岁,诊断原发性免疫缺陷病,口服伏立康唑治疗及预防真菌感染,治疗3~4周出现皮肤光分布性红斑及色素沉着,皮肤症状在停用伏立康唑约1个月后明显减轻。基因检查提示ABCB1基因rs1045642 T/T。复习相关文献发现ABCB1 rs1045642 T/T基因型使伏立康唑药物清除率降低。提示在临床实践中需在儿童患者中重视该不良反应,ABCB1基因多态性可能与伏立康唑药代动力学及不良反应相关,但仍需进行大样本研究验证。

The clinical data of a child with ABCB1 rs1045642 T/T genotype and skin photosensitivity induced by Voriconazole were analyzed retrospectively in Beijing Children′s Hospital,Capital Medical University in September 2020.Literature was reviewed to discuss the relationship between ABCB1 genetic polymorphism and Voriconazole pharmacokinetics.The patient was a 6.8-year-old boy,who was diagnosed with primary immunodeficiency disease.Long-term oral Voriconazole was administered for prevention and treatment of fungal infections.Skin photodistributed erythema and pigmentation occurred about 3-4 weeks after treatment.The skin lesions were significantly alleviated about 1 month after the withdrawal of Voriconazole.Gene test showed ABCB1 rs1045642 T/T in the patient.Some studies reported that ABCB1 rs1045642 T/T genotype reduced the clearance rate of Voriconazole.Monitoring such adverse reaction of Voriconazole in clinical practice is important.ABCB1 gene polymorphism is possible to correlate with the pharmacokinetics and adverse reactions of Voriconazole.However,further large-scale clinical studies are warranted to verify it.