背景:在某些情况下,类固醇耐药性肾病综合征(SRNS)是单基因的,然而,在儿童SRNS的临床实践中,目前尚无明确的基因检测指南.
方法:三百三十二名儿童被诊断为SRNS,所有的孩子都接受了基因检测,包括基因面板和/或全外显子组/基因组测序(WES/WGS),在治疗期间。我们分析了临床表现与基因型之间的关系,并比较了不同基因检测方法的检出率和价格。
结果:在这项研究中,30.12%(100/332)被诊断为SRNS的儿童具有单基因病因。33.7%(122/332)的儿童达到完全缓解,88.5%(108/122)接受类固醇联合他克莫司(TAC)治疗。在可检测性方面,基因组测试中WES增加8.69%(4/46),而WGS在WES上增加了4.27%(5/117),致病性每增加1%,WES的价格约为WGS的1/7。
结论:我们验证了类固醇联合TAC是儿科SRNS最有效的选择。在检测效率上,我们发现WGS最高,其次是WES。小组是最低的,但在考虑经济效益比时,最具成本效益的方法,因此,它应该首先在SRNS中推荐。
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.