儿童激素耐药型肾病综合征多基因突变与临床表型的研究  

Study on Multiple Gene Mutations and Clinical Phenotypes of Children with Hormone Resistant Nephrotic Syndrome

作　　者：杨倩 YANG Qian(Zhouqu County Maternal and Child Health Hospital,Gannan Prefecture,Gansu 746300)

机构地区：[1]舟曲县妇幼保健院,甘肃甘南746300

出　　处：《智慧健康》2023年第17期211-215,共5页Smart Healthcare

摘　　要：目的 研究儿童激素耐药型肾病综合征(SRNS)多基因突变与临床表型。方法 选取2017年2月-2018年12月本院收治的30例SRNS患儿记为研究对象。通过PCR扩增技术以及DNA二代测序法对所有患儿予以基因检测,分析激素耐药型肾病综合征患儿的基因突变情况。根据患儿是否发生基因突变将其分为基因突变组和无基因突变组,对比两组患儿的基本资料、临床表型以及临床治疗效果情况。结果 30例SRNS患儿基因突变发生率为30.00%,其中包括NPHS2基因突变4例、NPHS1基因突变3例、WT-1基因突变1例以及CD2AP基因突变1例。基因突变组肾炎型人数占比相比无基因突变组略高,而年龄、血浆清蛋白水平相比无基因突变组略低,但差异无统计学意义(P>0.05);基因突变组24h尿蛋白定量水平相比无基因突变组明显较高,差异有统计学意义(P<0.05);基因突变组患儿的治疗有效率仅为22.22%,低于基因突变组的42.86%,但组间对比差异无统计学意义(P>0.05)。结论 SRNS患儿基因突变主要为NPHS2、NPHS1、WT-1以及CD2AP等,且发生基因突变的SRNS患儿临床表型多见肾炎型,且年龄以及血浆清蛋白水平较低,24h尿蛋白定量水平明显较高,临床治疗效果普遍较差,值得临床重点关注。Objective To study multiple gene mutations and clinical phenotype of children with hormone resistant nephrotic syndrome(SRNS).Methods The paper chose 30 children with SRNS admitted to our hospital from February 2017 to December 2018 as research objects,detected with genetic testing by PCR amplification technology and DNA second generation sequencing to analyze the gene mutation,and divided them into gene mutation group and non gene mutation group based on situation of genetic mutations.Basic information,clinical phenotype and clinical treatment effect between two groups was compared.Results Incidence of gene mutations of 30 SRNS patients was 30.00%,including 4 NPHS2 gene mutations,3 NPHS1 gene mutations,1 WT-1 gene mutation and 1 CD2AP gene mutation.Proportion of people with nephritis in gene mutation group was slightly higher than non gene mutation group,while age and plasma albumin levels were slightly lower than non gene mutation group,difference was not statistically significant(P>0.05).24-hour urine protein quantitative level in gene mutation group was significantly higher than non gene mutation group,difference was statistically significant(P<0.05).Effective rate in gene mutation group was only 22.22%,lower than 42.86%in non gene mutation group,but there was no statistically significant difference between the groups(P>0.05).Conclusion Genetic mutations of children with SRNS include NPHS2,NPHS1,WT-1 and CD2AP.Clinical phenotype of SRNS patients with genetic mutations is often nephritic,with young age and plasma albumin levels.24-hour urine protein quantification level is significantly higher,with generally low clinical treatment effect,which is worthy of clinical attention.

关 键 词：激素耐药型肾病综合征 基因突变 临床表型 临床治疗效果 

分 类 号：R726.9[医药卫生—儿科]