Current status and prospects of diagnosis and treatment of genetic kidney diseases in Chinese children

doi:10.16150/j.1671-2870.2025.03.001

Abstract

Abstract:

Genetic kidney diseases refer to a broad category of renal disorders associated with genetic etiologies. They are the leading cause of end-stage kidney disease in children and adolescents，accounting for over 25% of pediatric patients requiring renal replacement therapy. In recent years，advancements in genetic testing technology have significantly improved the diagnostic rates of genetic kidney diseases，while comprehensive clinical evaluation and early screening of high-risk populations are of great diagnostic value. Currently，most genetic kidney diseases lack targeted therapies. Drug treatment prima-rily aims to provide symptomatic support，control proteinuria，and delay kidney function decline. The rapid development of gene therapy technology has brought hope for targeted etiological treatment of genetic kidney diseases. From 2014 to 2020，clinical phenotypes and whole-exome sequencing data from 2 256 pediatric patients with kidney diseases were analyzed to characterize the genetic spectrum of kidney diseases in Chinese children. The clinical diagnoses included steroid-resistant nephrotic syndrome （23.5%），glomerulonephritis （32.2%），CAKUT （21.2%），cystic kidney disease （3.9%），nephrocalcinosis or renal calculus （3.6%），tubulopathies （9.7%），and CKD of unknown etiology （5.8%）. The precision and treatment strategies，established based on the Chinese Children Genetic Kidney Disease Database （CCGKDD），enhance the diagnosis and treatment capabilities for pediatric genetic kidney diseases by focusing on genetic spectrum characterization，exploration of new genes and mechanisms，multi-center clinical research，and full life-cycle management.

Key words: Genetic kidney diseases, Diagnosis, Treatment, Children

CLC Number:

R725
R446

SHEN Qian. Current status and prospects of diagnosis and treatment of genetic kidney diseases in Chinese children[J]. Journal of Diagnostics Concepts & Practice, 2025, 24(03): 241-248.

Figures/Tables 2

References 37

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分子机制	部分关键基因	代表疾病
纤毛-中心体结构功能异常	PKD、PKHD等	多囊肾、常染色体隐性多囊肾、肾单位肾痨
足细胞完整性及功能异常	NPHS1、WT1等	先天性肾病综合征
肾小球基底膜结构异常	COL4A3-COL4A5等	奥尔波特综合征、薄基底膜肾病
肾小管和间质功能异常	UMOD、SLC12A1等	遗传性肾小管疾病
肾结石病	AGXT、SLC3A1等	原发性高草酸尿症、胱氨酸尿症等
发育异常	HN1FB、PAX2等	先天性肾脏和尿路发育异常
补体系统异常	CFH、CFI、CD46等	非典型溶血尿毒综合征、C₃肾小球病