单中心449例儿童肾穿刺活检病理及部分患儿基因结果分析

doi:10.3760/cma.j.cn441417-20240914-05003

国际医药卫生导报 ›› 2025, Vol. 31 ›› Issue (5): 719-723.DOI: 10.3760/cma.j.cn441417-20240914-05003

单中心449例儿童肾穿刺活检病理及部分患儿基因结果分析

刘玉洁李玉柳张亚欣赵公平曹广海张书锋田明刘翠华

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免疫科郑州市儿童肾脏病研究重点实验室，郑州 450000

收稿日期:2024-09-14 出版日期:2025-03-01 发布日期:2025-03-14
通讯作者: 刘翠华，Email：lchlch123@126.com
基金资助:
河南省医学科技攻关计划联合共建项目（LHGJ20210631）

Analysis of kidney pathology and partial gene results in 449 children from a single center

Liu Yujie, Li Yuliu, Zhang Yaxin, Zhao Gongping, Cao Guanghai, Zhang Shufeng, Tian Ming, 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 Pediatric Kidney Disease Research, Zhengzhou 450000, China

Received:2024-09-14 Online:2025-03-01 Published:2025-03-14
Contact: Liu Cuihua, Email: lchlch123@126.com
Supported by:
Henan Province Medical Science and Technology Research Plan Joint Construction Project (LHGJ20210631)

摘要/Abstract

摘要：

目的　了解儿童肾脏病病理诊断构成特点及基因情况。方法　收集2020年1月至2023年12月于河南省儿童医院肾脏风湿免疫科住院接受肾穿刺活检的449例肾脏病患儿病理资料及部分患儿基因检测结果。于患儿入院后1周内完成肾穿刺活检、病理检查以及基因检测。结果　在449例肾脏病患儿中，男308例（68.60%），女141例（31.40%）；年龄为10月龄～17岁，中位年龄为5岁；临床表现：肾型过敏性紫癜159例，血尿和（或）蛋白尿133例，肾病综合征115例，肾功能不全15例，狼疮性肾炎14例，重复肾活检12例。原发性肾小球疾病242例，占比53.90%，其中微小病变性肾病（MCD）97例，IgA肾病78例，局灶节段性肾小球硬化症（FSGS）24例，膜性肾病13例。继发肾小球疾病173例，占比38.53%，其中紫癜性肾炎159例，狼疮性肾炎14例。肾小管-间质疾病9例，占比2.00%，其中急性肾小管-间质损伤7例，亚急性肾小管-间质肾病1例，中度慢性肾小管-间质损伤1例。2例重复肾活检患儿结果发生改变：患儿3初次肾活检结果为轻微病变肾小球病，重复肾活检结果为Alport综合征；患儿5初次肾活检结果为MCD，重复肾活检结果为FSGS。67例肾脏病患儿行基因检测，阳性39例，占比58.21%，其中Alport综合征15例，FSGS 14例，微小病变性肾病14例，轻度系膜增生性肾小球肾炎7例。结论　原发性肾小球疾病仍是常见儿童肾脏疾病，以MCD和IgA肾病为主。继发肾小球疾病以紫癜性肾炎多见。

关键词:

儿童, 肾脏病理, 疾病谱, 基因, 肾穿刺活检

Abstract:

Objective　To investigate the pathological features and genetic status of renal disease in children. Methods　The pathological data and partial genetic test results of 449 children with renal disease who received renal biopsy in Department of Nephrology and Rheumatology, Henan Children's Hospital from January 2020 to December 2023 were analyzed retrospectively. Renal puncture biopsy, pathological examination, and gene test were completed within 1 week after admission. Results　Among 449 children with renal disease, there were 308 boys (68.60%) and 141 girls (31.40%), ranging in age from 10 months to 17 years old, with a median age of 5 years old. The most common clinical diagnosis was Henoch-Schonlein purpura nephritis (159 cases), followed by hematuria with/without proteinuria (133 cases), nephrotic syndrome (115 cases), renal insufficiency (15 cases), lupus nephritis (14 cases), and repeated renal biopsy (12 cases). There were 242 children with primary glomerular diseases, accounting for 53.90%, including 97 cases of minimal change disease (MCD), 78 cases of immunoglobulin (Ig) A nephropathy, 24 cases of focal segmental glomerulosclerosis (FSGS), and 13 cases of membranous nephropathy. There were 173 children with secondary glomerular disease, accounting for 38.53%, including 159 cases of purpura nephritis and 14 cases of lupus nephritis. There were 9 cases of renal tubulointerstitial disease, accounting for 2.00%, including 7 cases of acute tubulointerstitial injury, 1 case of subacute tubulointerstitial nephropathy, and 1 case of moderate chronic tubulointerstitial injury. There were 12 children with repeated kidney biopsy, among whom 2 children had changes in the results of repeated renal biopsy: the results of primary renal biopsy and repeated renal biopsy were mild pathological glomerulopathy and Alport syndrome, and the results of primary renal biopsy and repeated renal biopsy were MCD and FSGS. Among 67 children with renal disease, 39 cases (58.21%) were positive, including 15 cases of Alport syndrome, 14 cases of FSGS, 14 cases of minor degenerative nephropathy, and 7 cases of mild mesangial proliferative glomerulonephritis. Conclusions　Primary glomerular disease is still the most common renal disease in children, mainly MCD and IgA nephropathy. The secondary renal disease is mainly purpura nephritis.

Key words:

Children, Renal pathology, Disease spectrum, Gene, Renal biopsy

刘玉洁李玉柳张亚欣赵公平曹广海张书锋田明刘翠华.

单中心449例儿童肾穿刺活检病理及部分患儿基因结果分析 [J]. 国际医药卫生导报, 2025, 31(5): 719-723.

Liu Yujie, Li Yuliu, Zhang Yaxin, Zhao Gongping, Cao Guanghai, Zhang Shufeng, Tian Ming, Liu Cuihua.

Analysis of kidney pathology and partial gene results in 449 children from a single center [J]. International Medicine and Health Guidance News, 2025, 31(5): 719-723.

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单中心449例儿童肾穿刺活检病理及部分患儿基因结果分析

Analysis of kidney pathology and partial gene results in 449 children from a single center

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