中国儿童遗传性肾脏病的诊治现状及展望

摘要/Abstract

摘要：

遗传性肾脏病是一大类与遗传相关，涉及不同病因的肾脏疾病的总称。遗传性肾脏病是儿童及青少年终末期肾病的首要病因，在需要肾脏替代治疗的儿童患者中，遗传性肾脏病的占比高达25%以上。近年来，基因检测技术的发展极大地提高了遗传性肾脏病的诊断率，临床全面评估及早期筛查高危人群具有重要的诊断价值。目前对于多数遗传性肾脏病患者尚无特异性治疗方式，药物治疗的主要目标是对症支持、控制蛋白尿及延缓肾功能衰退。基因治疗技术的飞速发展则为遗传性肾脏病靶向病因治疗带来希望。依据2014年至2020年共2 256例儿童肾脏病患儿的临床表型及全外显子测序数据，对中国儿童肾脏疾病遗传谱进行刻画，临床诊断涵盖激素耐药肾病综合征（23.5%）、肾小球肾炎（32.2%）、CAKUT（21.2%）、囊性肾脏病（3.9%）、肾钙质沉着或结石（3.6%）、肾小管疾病（9.7%）和不明原因CKD（5.8%）等。依托于中国儿童遗传性肾脏病数据库构建的精准诊治策略，将从儿童肾脏疾病遗传谱刻画、遗传性肾脏病新基因及机制探索、多中心临床研究开展、全生命周期管理等方面，提高对儿童遗传性肾脏病的诊治能力。

关键词:遗传性肾脏病,诊断,治疗,儿童

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

中图分类号:

R725
R446

沈茜. 中国儿童遗传性肾脏病的诊治现状及展望[J]. 诊断学理论与实践, 2025, 24(03): 241-248.

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.

图/表2

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

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