单基因突变在激素耐药性肾病综合征发病机制中的研究进展  

Research Progress of Monogenic Mutation in the Pathogenesis of Steroid⁃Resistant Nephrotic Syndrome

作　　者：张璐彦 郑必霞[1] 张爱华[1] ZHANG Luyan;ZHENG Bixia;ZHANG Aihua(Department of Nephrology,Key Laboratory of Pediatrics,Children′s Hospital of Nanjing Medical University,Nanjing 210000,China)

机构地区：[1]南京医科大学附属儿童医院肾内科,儿科重点实验室,南京210000

出　　处：《罕见病研究》2024年第1期18-29,共12页Journal of Rare Diseases

基　　金：国家自然科学基金(82270746);国家重点研发计划(2022YFC2705100,2022YFC2705105)。

摘　　要：激素耐药性肾病综合征(SRNS)是儿童慢性肾脏病的常见病因之一,伴有快速进展至终末期肾病的显著风险。随着高通量测序技术的发展,目前已发现70多种孟德尔遗传模式的单基因突变与SRNS发病相关,这些基因大多与足细胞功能相关。明确SRNS患儿单基因学诊断,可指导患儿临床诊疗与遗传咨询,避免过度应用激素/免疫抑制剂治疗,同时为SRNS患儿的靶向点治疗提供可能。本文就SRNS主要单基因突变类型的分子机制、基因检测和特异性治疗等予以归纳和总结。Steroid-resistant nephrotic syndrome(SRNS)is the second cause of chronic kidney disease in children.The SRNS has high risk of rapid progression to end-stage renal disease.With the advancement of high-throughput sequencing technology,more than 70 monogenic mutation having the Mendelian inheritance patterns are identified to be associated with SRNS.Most of these genes are involved in podocyte function.Accurate diagnosis of monogenic mutation in SRNS patients helps with guiding clinical treatment protocols and genetic counseling,avoiding the excessive use of steroids/immunosuppressive therapy,and opening up possibilities for targeted therapies in SRNS patients.In this article,our research team summarizes and generalizes the molecular mechanisms,genetic testing,and specific treatment for the major types of monogenic mutations associated with SRNS.

关 键 词：激素耐药性肾病综合征 单基因突变 足细胞 蛋白尿 

分 类 号：R725[医药卫生—儿科]