云南儿童激素耐药型肾病综合征基因突变特点分析

Analysis on gene mutation characteristic of children with steroid-resistant nephrotic syndrome in Yunnan Province

目的通过分析本院儿童SRNS的致病基因突变特点,探讨存在基因突变患儿的临床表现及预后,为儿童SRNS的精准诊治提供理论依据。方法研究对象为2015年1月1日-2021年10月1日本科诊断为SRNS、年龄<14岁的71例住院患儿,依据发病年龄分为婴儿型SRNS(3~12月龄)、儿童早发型SRNS(1~5岁)和儿童迟发型SRNS(5~14岁);应用DNA二代测序法进行基因检测。结果婴儿型SRNS检出基因突变率最高(57.1%),其中发现了NUP93和PLCE1两个新发突变位点。迟发型SRNS基因突变检出率次之(45.5%),早发型SRNS检出基因突变率最低(33.3%),2组均以COL4An突变比例最高。有基因突变组的患儿药物治疗有效率低于无基因突变组患儿。结论云南SRNS儿童基因突变总检出率39.4%,不同年龄段基因变异率存在差异,有基因突变的患儿对药物治疗效果差;对于SRNS患儿应积极完善基因检测,避免过度治疗。

Objective Analyze pathogenic gene mutation characteristic of children with steroid-resistant nephrotic syndrome(SRNS)in our hospital,discuss the clinical manifestations and prognosis of children with gene mutations,so as to provide theoretical basis for the precise diagnosis and treatment of SRNS gene mutation in children.Methods The subjects were 71 hospitalized children under 14 years old who were diagnosed with SRNS in our department during January 1,2015 to October 1,2021.According to the age of onset,SRNS were divided into infantile SRNS(3-12 months old),early-onset SRNS in children(1-5 years old)and late-onset SRNS in children(5-14 years old).DNA second generation sequencing method was used for gene detection.Results The frequency of gene mutation was the highest in infantile SRNS(4/7,57.1%),and two new mutation sites,NUP93 and PLCE1 were found.The mutation rate of late-onset SRNS was the second highest(10/22,45.5%),and the mutation rate of early-onset SRNS was the lowest(7/42,16.7%),the mutation rate of C0L4An was the highest in two groups.The effective rate of drug therapy in group with gene mutation was lower than the in the group without gene mutation.Conclusions The frequency of gene mutations in children with SRNS was 39.4%in Yunnan Province.There is difference in gene mutation rate in different age group.The drug therapy efficacy is worse in gene-mutated SRNS childre;For children with SRNS,genetic testing should be avtively improved to avoid over-treatment.