摘要
目的分析激素耐药型肾病综合征（SRNS）患儿的足细胞基因突变情况，探讨存在基因突变患儿的临床表现及预后，为儿童SRNS的基因突变诊治提供理论依据。方法研究对象为2014年8月31日至2016年9月1日中山大学附属第一医院小儿肾病中心诊断为SRNS、年龄≤14岁的24例住院患儿。应用PCR扩增和DNA二代测序法对患儿进行基因检测，23例采用肾病panel对目的基因进行检测，1例采用全外显子基因测序。结果24例行基因检测的患儿中男14例，女10例；发病中位年龄4.7岁；单纯型9例，肾炎型15例，均为初发耐药型；20例行肾活检，其中5例微小病变（MCD），11例局灶节段性肾小球硬化（FSGS），4例系膜增生性肾小球肾炎（MsPGN）。其中8例检测出基因突变，年龄（3.97±3.61）岁，男女比例为1.671.00；临床分型以肾炎型为主（6/8例）。主要突变基因分别为NPHS2 3例，NPHS1 2例，INF2 2例，MYO1E 1例；病理类型以FSGS为主（4/5例）；大部分患儿为不缓解或终末期肾病（ESRD）（6/8例），其中2例行肾移植。基因突变组患儿24 h尿蛋白定量水平明显高于无基因突变组[195.4（166.0，262.4） mg/（kg·d）比85.4（74.5，101.3） mg/（kg·d）]，差异有统计学意义（Z＝－3.674，P〈0.001）。结论SRNS患儿主要突变基因为NPHS2、NPHS1等；有基因突变SRNS患儿病理类型以FSGS为主，预后多为不缓解或ESRD；SRNS患儿24 h尿蛋白定量水平越高，发生基因突变可能性越大。
ObjectiveTo analyze the podocyte gene mutation in children with steroid-resistant nephrotic syndrome （SRNS）, and to explore the clinical manifestations and prognosis of children with gene mutation, so as to provide a theoretical basis for the diagnosis and treatment of SRNS gene mutation in children.MethodsTwenty-four patients with SRNS diagnosis and ages less than 14 years old were selected from the Pediatric Nephrology Center of First Affiliated Hospital of Sun Yat-Sen University during August 31, 2014 to September 1, 2016.The gene detection was performed through PCR amplification and second DNA general sequencing, in which the target genes were detected in 23 cases with nephrotic panel, and 1 case was sequenced with the exon gene.ResultsThere were 14 cases of male and 10 cases of female in 24 cases of genetic testing.The median age of onset was 4.7 years old.There were 9 cases of simple type, 15 cases of nephritis type.And all the cases were primary steroid-resistant.Within the 20 cases of renal biopsy, there were 5 cases of minimal change disease （MCD）, 11 cases of focal segmental glomerulosclerosis（FSGS）, and 4 cases of mesangial proliferative glomerulonephritis （MsPGN）. In the 24 cases, there were 8 cases of gene mutation.Their age was （3.97±3.61） years old.The ratio of male and female was 1.671.00.The main clinical classification was nephritis type （6/8 cases）. The major genes were NPHS2（3 cases）, NPHS1（2 cases）, INF2（2 cases）, MYO1E（1 case）. And FSGS was the main pathological type （4 cases）. Most of them were no remission or end stage renal disease（ESRD） （6/8 cases）, including 2 cases of renal transplantation.The 24 hour urine protein level in the gene mutation group was significantly higher than that in the non-mutation group [195.4 （166.0, 262.4） mg/（kg·d） vs. 85.4 （74.5, 101.3） mg/（kg·d）], and the difference was statistically significant （Z=-3.674, P〈0.001）.ConclusionThe main mutation genes of children with SRNS were NPHS2,
作者
郑方芳
陈丽植
姜梦婕
容丽萍
李获菁
莫樱
蒋小云
Zheng Fangfang;Chen Lizhi;Jiang Mengfie;Rong Liping;Li Difing;Mo Ying;Jiang Xiaoyun(Department of Pediatrics, the First Affiliated Hospital of Sun Yat - Sen University, Guangzhou 510080, China)
出处
《中华实用儿科临床杂志》
CSCD
北大核心
2018年第12期923-927,共5页
Chinese Journal of Applied Clinical Pediatrics
基金
广东省科技计划项目（2014A020212140）
广州市科技计划项目（201607010284）
珠海市科技计划项目（20161027E030070）
关键词
肾病综合征
激素耐药型
基因突变
预后
儿童
Nephrotic syndrome
Steroid - resistance
Gene mutation
Prognosis
Child
