Comparison of different genetic testing modalities applied in paediatric patients with steroid-resistant nephrotic syndrome

作者全名：Cheng, Xueting; Chen, Jiahuan; Yang, Xueying; Chan, Han; Yang, Xia; Jiao, Jia; Wang, Anshuo; Zhang, Gaofu; Chen, Xuelan; Li, Xiaoqin; Wang, Mo; Yang, Baohui; Yang, Haiping; Li, Qiu

作者地址：[Cheng, Xueting; Chen, Jiahuan; Yang, Xueying; Chan, Han; Yang, Xia; Jiao, Jia; Wang, Anshuo; Zhang, Gaofu; Chen, Xuelan; Li, Xiaoqin; Wang, Mo; Yang, Baohui; Yang, Haiping; Li, Qiu] Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Dept Nephrol, Minist Educ,Key Lab Child Dev & Disorders,Children, Chongqing, Peoples R China

通信作者：Yang, HP; Li, Q (通讯作者)，Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Dept Nephrol, Minist Educ,Key Lab Child Dev & Disorders,Children, Chongqing, Peoples R China.

来源：ITALIAN JOURNAL OF PEDIATRICS

ESI学科分类：CLINICAL MEDICINE

WOS号：WOS:001207156900001

JCR分区：Q1

影响因子：3.2

年份：2024

卷号：50

期号：1

开始页：　

结束页：　

文献类型：Article

关键词：Genetic testing; Steroid-resistant nephrotic syndrome; Children

摘要：Background Steroid-resistant nephrotic syndrome (SRNS) are monogenic in some cases, however, there are still no clear guidelines on genetic testing in the clinical practice of SRNS in children.Methods Three hundred thirty-two children were diagnosed with SRNS, and all children underwent genetic testing, including gene panels and/or whole-exome/genome sequencing (WES/WGS), during treatment. We analysed the relationship between clinical manifestation and genotype, and compared different genetic testing methods' detection rates and prices.Results In this study, 30.12% (100/332) of children diagnosed with SRNS had monogenic causes of the disease. With 33.7% (122/332) of children achieving complete remission, 88.5% (108/122) received steroids combined with tacrolimus (TAC). In detectability, WES increased by 8.69% (4/46) on gene panel testing, while WGS increased by 4.27% (5/117) on WES, and WES was approximately 1/7 of the price of WGS for every further 1% increase in pathogenicity.Conclusions We verified that steroids combined with TAC were the most effective option in paediatric SRNS. In detection efficiency, we found that WGS was the highest, followed by WES. The panel was the lowest, but the most cost-effective method when considering the economic-benefit ratio, and thus it should be recommended first in SRNS.

基金机构：Special Funds for the Basic Research and Development Program in the Central Non-profit Research Institutesof China; Coordinators, and Joy Orient Translational Medicine Research Center Co., Ltd. in Beijing

基金资助正文：The authors would like to thank all the patients, families, and pediatricians for their cooperation in this study. The authors would also like to thank our MyGenostics Co., Ltd. Coordinators, and Joy Orient Translational Medicine Research Center Co., Ltd. in Beijing for their support of sequencing technology.