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The status quo and challenges of genetic diagnosis in children with steroid-resistant nephrotic syndrome.

作者信息

Jin Yan-Yan, Feng Bing-Yu, Mao Jian-Hua

机构信息

Department of Nephrology, Children's Hospital, Zhejiang University School of Medicine, #57 Zhugan Lane, Hangzhou, 310003, China.

Department of Paediatrics, The First People's Hospital of Huzhou, Huzhou, 313000, China.

出版信息

World J Pediatr. 2018 Apr;14(2):105-109. doi: 10.1007/s12519-018-0156-4. Epub 2018 Apr 11.

DOI:10.1007/s12519-018-0156-4
PMID:29644498
Abstract
摘要

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本文引用的文献

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Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center.在一家中心，对 24 个基因进行分析后发现，11.1%的激素耐药性肾病综合征患者存在单基因病因。
Pediatr Nephrol. 2018 Feb;33(2):305-314. doi: 10.1007/s00467-017-3801-6. Epub 2017 Sep 18.
2
Difficult-to-treat idiopathic nephrotic syndrome: established drugs, open questions and future options.难治性特发性肾病综合征：现有药物、待解决的问题和未来选择。
Pediatr Nephrol. 2018 Oct;33(10):1641-1649. doi: 10.1007/s00467-017-3780-7. Epub 2017 Sep 6.
3
Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations.
采用定制设计的类固醇抵抗性肾病综合征基因.panel 进行临床基因检测：分析与建议。
J Med Genet. 2017 Dec;54(12):795-804. doi: 10.1136/jmedgenet-2017-104811. Epub 2017 Aug 5.
4
Application of next-generation sequencing technology to diagnosis and treatment of focal segmental glomerulosclerosis.下一代测序技术在局灶节段性肾小球硬化诊断与治疗中的应用。
Clin Exp Nephrol. 2018 Jun;22(3):491-500. doi: 10.1007/s10157-017-1449-y. Epub 2017 Jul 27.
5
Long-Term Outcome of Steroid-Resistant Nephrotic Syndrome in Children.儿童激素抵抗型肾病综合征的长期预后
J Am Soc Nephrol. 2017 Oct;28(10):3055-3065. doi: 10.1681/ASN.2016101121. Epub 2017 May 31.
6
Mutation spectrum of genes associated with steroid-resistant nephrotic syndrome in Chinese children.中国儿童类固醇抵抗性肾病综合征相关基因的突变谱
Gene. 2017 Aug 20;625:15-20. doi: 10.1016/j.gene.2017.04.050. Epub 2017 May 2.
7
Applications of the CRISPR-Cas9 system in kidney research.CRISPR-Cas9 系统在肾脏研究中的应用。
Kidney Int. 2017 Aug;92(2):324-335. doi: 10.1016/j.kint.2017.01.037. Epub 2017 Apr 20.
8
Genetics of hereditary nephrotic syndrome: a clinical review.遗传性肾病综合征的遗传学：临床综述
Korean J Pediatr. 2017 Mar;60(3):55-63. doi: 10.3345/kjp.2017.60.3.55. Epub 2017 Mar 27.
9
Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.中国激素抵抗型肾病综合征患儿的基因突变谱
Pediatr Nephrol. 2017 Jul;32(7):1181-1192. doi: 10.1007/s00467-017-3590-y. Epub 2017 Feb 15.
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Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.对全国肾病综合征队列进行基因组和临床分析，提倡采用精准医疗方法进行疾病管理。
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