Clinical and prognostic characteristics of renal hypodysplasia in children: insights from a 10-year single-center cohort.

IF 2.6 3区医学 Q1 PEDIATRICS

Pediatric Nephrology Pub Date : 2025-10-07 DOI:10.1007/s00467-025-06987-9

Na Li, Ying Zhang, Lin Huang, Juanjuan Ding, Xiaowen Wang

{"title":"Clinical and prognostic characteristics of renal hypodysplasia in children: insights from a 10-year single-center cohort.","authors":"Na Li, Ying Zhang, Lin Huang, Juanjuan Ding, Xiaowen Wang","doi":"10.1007/s00467-025-06987-9","DOIUrl":null,"url":null,"abstract":"Background: Renal hypodysplasia (RHD) is a common and severe form of congenital anomalies of the kidney and urinary tract (CAKUT), often leading to chronic kidney disease (CKD) in children. This study, leveraging a 10-year single-center cohort, aims to elucidate clinical and prognostic characteristics as well as genetic causes in pediatric RHD.Methods: We enrolled 322 patients diagnosed with primary RHD by ultrasound at Wuhan Children's Hospital in the past decade. Baseline and follow-up data were collected. Kidney outcomes were investigated using Kaplan-Meier curves and Cox regression model to assess risk factors for early CKD event (eGFR < 75 mL/min/1.73 m2). Whole Exome Sequencing and copy number variation analysis were performed to identify genetic causes.Results: Among 322 RHD patients, 281 (87.3%) had unilateral kidney involvement, and 41 (12.7%) had bilateral involvement. Patients with bilateral RHD exhibited worse kidney function and CKD stage (P < 0.001), while unilateral RHD was more frequently associated with additional CAKUT. After median follow-up of 4.5 years, 72 (22.4%) patients reached the early CKD endpoint. Bilateral kidney involvement (HR = 4.40, 95% CI 2.31-8.39, P < 0.001), urine ACR levels (3-30 mg/mmol: HR = 2.24, 95% CI 1.02-4.92, P = 0.044; > 30 mg/mmol: HR = 2.55, 95% CI 1.32-4.93, P = 0.005), and extra-urogenital malformations (HR = 2.28, 95% CI 1.26-4.10, P = 0.006) were independent risk factors. Genetic testing revealed PAX2, WT1 variants, and 17q12 deletion as the most prevalent pathogenic variations.Conclusions: This study reveals distinct clinical and prognostic characteristics between unilateral and bilateral RHD. Bilateral kidney lesions, albuminuria, and extra-urogenital malformations are independent risk factors for kidney function decline. PAX2, WT1 variants, and 17q12 deletion are the most common genetic causes.","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":""},"PeriodicalIF":2.6000,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric Nephrology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s00467-025-06987-9","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"PEDIATRICS","Score":null,"Total":0}

引用次数: 0

Abstract

Background: Renal hypodysplasia (RHD) is a common and severe form of congenital anomalies of the kidney and urinary tract (CAKUT), often leading to chronic kidney disease (CKD) in children. This study, leveraging a 10-year single-center cohort, aims to elucidate clinical and prognostic characteristics as well as genetic causes in pediatric RHD.

Methods: We enrolled 322 patients diagnosed with primary RHD by ultrasound at Wuhan Children's Hospital in the past decade. Baseline and follow-up data were collected. Kidney outcomes were investigated using Kaplan-Meier curves and Cox regression model to assess risk factors for early CKD event (eGFR < 75 mL/min/1.73 m²). Whole Exome Sequencing and copy number variation analysis were performed to identify genetic causes.

Results: Among 322 RHD patients, 281 (87.3%) had unilateral kidney involvement, and 41 (12.7%) had bilateral involvement. Patients with bilateral RHD exhibited worse kidney function and CKD stage (P < 0.001), while unilateral RHD was more frequently associated with additional CAKUT. After median follow-up of 4.5 years, 72 (22.4%) patients reached the early CKD endpoint. Bilateral kidney involvement (HR = 4.40, 95% CI 2.31-8.39, P < 0.001), urine ACR levels (3-30 mg/mmol: HR = 2.24, 95% CI 1.02-4.92, P = 0.044; > 30 mg/mmol: HR = 2.55, 95% CI 1.32-4.93, P = 0.005), and extra-urogenital malformations (HR = 2.28, 95% CI 1.26-4.10, P = 0.006) were independent risk factors. Genetic testing revealed PAX2, WT1 variants, and 17q12 deletion as the most prevalent pathogenic variations.

Conclusions: This study reveals distinct clinical and prognostic characteristics between unilateral and bilateral RHD. Bilateral kidney lesions, albuminuria, and extra-urogenital malformations are independent risk factors for kidney function decline. PAX2, WT1 variants, and 17q12 deletion are the most common genetic causes.

查看原文本刊更多论文

儿童肾发育不良的临床和预后特征：来自10年单中心队列的见解。

背景：肾发育不良（RHD）是一种常见且严重的先天性肾脏和尿路异常（CAKUT），常导致儿童慢性肾脏疾病（CKD）。本研究利用10年单中心队列，旨在阐明儿童RHD的临床和预后特征以及遗传原因。方法：选取武汉市儿童医院近十年来超声诊断为原发性RHD的322例患者。收集基线和随访数据。肾脏预后采用Kaplan-Meier曲线和Cox回归模型评估早期CKD事件的危险因素（eGFR 2）。全外显子组测序和拷贝数变异分析确定遗传原因。结果：322例RHD患者中，281例（87.3%）单侧肾脏受累，41例（12.7%）双侧肾脏受累。双侧RHD患者肾功能和CKD分期较差（P 30 mg/mmol: HR = 2.55, 95% CI 1.32 ~ 4.93, P = 0.005），泌尿生殖道外畸形（HR = 2.28, 95% CI 1.26 ~ 4.10, P = 0.006）是独立危险因素。基因检测显示PAX2、WT1变异和17q12缺失是最常见的致病变异。结论：本研究揭示了单侧和双侧RHD不同的临床和预后特征。双侧肾脏病变、蛋白尿和泌尿生殖器外畸形是肾功能下降的独立危险因素。PAX2、WT1变异和17q12缺失是最常见的遗传原因。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Pediatric Nephrology 医学-泌尿学与肾脏学

CiteScore

4.70

自引率

20.00%

发文量

465

审稿时长

1 months

期刊介绍： International Pediatric Nephrology Association Pediatric Nephrology publishes original clinical research related to acute and chronic diseases that affect renal function, blood pressure, and fluid and electrolyte disorders in children. Studies may involve medical, surgical, nutritional, physiologic, biochemical, genetic, pathologic or immunologic aspects of disease, imaging techniques or consequences of acute or chronic kidney disease. There are 12 issues per year that contain Editorial Commentaries, Reviews, Educational Reviews, Original Articles, Brief Reports, Rapid Communications, Clinical Quizzes, and Letters to the Editors.