一例CYP3A5代谢酶变异与垂体前叶功能减退病例报告并文献复习  

A Case Report and Literature Review of CYP3A5 Metabolic Enzyme Mu⁃tation and Anterior Pituitary Dysfunction

作　　者：李君[1] 邢广群[1] 田芬[1] LI Jun;XING Guangqun;TIAN Fen(Department of Nephrology,Affiliated Hospital of Qingdao University,Qingdao 266000,Shandong,China)

机构地区：[1]青岛大学附属医院肾病科,山东青岛266000

出　　处：《系统医学》2024年第23期35-38,共4页Systems Medicine

摘　　要：目的 探讨人细胞色素P450家族成员3A5(cytochrome P450 family member 3A5, CYP3A5)编码基因变异对糖皮质激素的代谢影响以及与垂体前叶功能减退的关系。方法 回顾性选取2021年3月青岛大学附属医院肾病科的一例病理类型为膜性肾病合并IgA肾病的肾病综合征患者的临床资料,并对该病进行文献复习。结果 该患者给予常规剂量他克莫司治疗后,检测其他克莫司血药浓度异常增高,发现患者他克莫司代谢酶CYP3A5编码基因存在纯合突变,导致他克莫司蓄积。同时发现该患者垂体前叶功能减退,考虑患者垂体前叶功能减退与糖皮质激素蓄积并反馈抑制垂体前叶功能有关。经过调整糖皮质激素及他克莫司用量,监测患者甲功三项,指标均逐渐好转。结论 CYP3A5基因多态性引起的CYP3A5代谢酶慢代谢型变异,会导致其代谢药物的蓄积,尤其是糖皮质激素,进而引起包括垂体前叶功能减退在内的一系列临床不良结局。Objective To investigate the effects of variants in the gene encoding human cytochrome P450 family mem⁃ber 3A5(CYP3A5)on the metabolism of glucocorticoids and its association with anterior pituitary hypopituitarism.Methods The clinical data of a patient with nephrotic syndrome whose pathologic type was membranous nephropathy combined with IgA nephropathy in the Department of Nephrology,Affiliated Hospital of Qingdao University,were retrospectively selected in March 2021,and a literature review was performed.Results After the patient was given regu⁃lar dose of tacrolimus,the blood concentration of other tacrolimus was detected to be abnormally high,and it was found that there was a pure mutation in the gene encoding the tacrolimus metabolizing enzyme CYP3A5,which led to the accumulation of tacrolimus in the patient.At the same time,the patient was found to have anterior pituitary hypoplasia,and it was considered that the patient's anterior pituitary hypoplasia was related to the accumulation of glucocorticoids and feedback inhibition of anterior pituitary function.After adjusting the dosage of glucocorticoid and tacrolimus,the patient was monitored for three items of thyroid function,and the indicators gradually improved.Conclusion Slow-metabolizing type variants of CYP3A5 metabolizing enzymes caused by polymorphisms in the CYP3A5 gene lead to accumulation of the drugs they metabolize,especially glucocorticoids,which in turn cause a range of adverse clinical outcomes including anterior pituitary hypopituitarism.

关 键 词：人细胞色素P450家族成员3A5 基因多态性 糖皮质激素 垂体前叶功能减退 

分 类 号：R4[医药卫生—临床医学]