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Italian Journal of Pediatrics
Published in: Italian Journal of Pediatrics 1/2024

Open Access 01-12-2024 | Nephrotic Syndrome | Research

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

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

Published in: Italian Journal of Pediatrics | Issue 1/2024

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Abstract

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.
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Metadata
Title
Comparison of different genetic testing modalities applied in paediatric patients with steroid-resistant nephrotic syndrome
Authors
Xueting Cheng
Jiahuan Chen
Xueying Yang
Han Chan
Xia Yang
Jia Jiao
Anshuo Wang
Gaofu Zhang
Xuelan Chen
Xiaoqin Li
Mo Wang
Baohui Yang
Haiping Yang
Qiu Li
Publication date
01-12-2024
Publisher
BioMed Central
Published in
Italian Journal of Pediatrics / Issue 1/2024
Electronic ISSN: 1824-7288
DOI
https://doi.org/10.1186/s13052-024-01655-4

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