TRPC6基因变异致儿童激素耐药型肾病综合征的机制及其治疗研究进展  

Progress on the mechanism and treatment of steroid-resistant nephrotic syndrome in children induced by TRPC6 gene variation

作　　者：赵公平 李纪同 刘翠华[1] Zhao Gongping;Li Jitong;Liu Cuihua(Department of Nephrology and Rheumatology,Children's Hospital Affiliated to Zhengzhou University,Henan Children's Hospital,Zhengzhou Children's Hospital,Zhengzhou Key Laboratory of Children's Kidney Disease Research,Zhengzhou 450018,China)

机构地区：[1]郑州大学附属儿童医院、河南省儿童医院、郑州儿童医院肾脏风湿科、郑州市儿童肾脏病研究重点实验室,450018

出　　处：《国际儿科学杂志》2024年第8期532-536,共5页International Journal of Pediatrics

基　　金：河南省教育厅河南省高等学校重点科研项目(22A310028)。

摘　　要：瞬时受体电位阳离子通道6(transient receptor potential cation channel 6,TRPC6)基因主要表达于肾脏足细胞,其变异可导致激素耐药型肾病综合征(steroid-resistant nephrotic syndrome,SRNS),具体发病机制尚未明确。此类患儿对激素及免疫抑制剂反应差,缺乏特异性治疗药物,预后不良。近些年研究发现一些药物可以通过抑制TRPC6基因的表达或其下游信号传导通路减缓疾病进展,TRPC6蛋白特异性阻滞剂的发现可能是治疗此类患儿的希望。该综述重点介绍儿童TRPC6基因变异致SRNS的发病机制以及药物治疗的研究进展。Transient receptor potential cation channel 6(TRPC6)gene is mainly expressed in renal podiocytes.Its variation can lead to steroid-resistant nephrotic syndrome(SRNS),and the specific pathogenesis is not clear.These children have poor response to hormones and immunosuppressants,with lack of specific therapeutic drugs,and poor prognosis.In recent years,it has been found that some drugs can slow down disease progression by inhibiting the expression of TRPC6 gene or its downstream signaling pathway,and the discovery of TRPC6 protein-specific blockers may be the hope of treating such children.This review focuses on the pathogenesis of SRNS induced by TRPC6 gene variation in children and the research progress of drug therapy.

关 键 词：儿童 TRPC6基因 基因变异 肾病综合征 

分 类 号：R726.9[医药卫生—儿科]