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High Incidence of Genetic Variants Among a Cohort of Children With Steroid-Resistant Nephrotic Syndrome From Eastern India.

作者信息

Sinha Rajiv, Ray Chaudhury Arpita, Sarkar Subhankar, Banerjee Sushmita, Pulai Smartya, Dasgupta Saugat, Muorah Mordi, Datta Dipanjana

机构信息

Institute of Child Health, Kolkata, India.

Apollo Multispecialty Hospital, Kolkata, India.

出版信息

Kidney Int Rep. 2022 Jan 17;7(4):913-915. doi: 10.1016/j.ekir.2022.01.1047. eCollection 2022 Apr.

DOI:10.1016/j.ekir.2022.01.1047
PMID:35497790
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9039466/
Abstract
摘要

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本文引用的文献

1
Variations of type IV collagen-encoding genes in patients with histological diagnosis of focal segmental glomerulosclerosis.在组织学诊断为局灶节段性肾小球硬化症的患者中，IV 型胶原编码基因的变异。
Pediatr Nephrol. 2020 Jun;35(6):927-936. doi: 10.1007/s00467-019-04282-y. Epub 2019 Jun 28.
2
Targeted gene panel for genetic testing of south Indian children with steroid resistant nephrotic syndrome.用于南印度类固醇抵抗性肾病综合征儿童基因检测的靶向基因panel
BMC Med Genet. 2018 Nov 20;19(1):200. doi: 10.1186/s12881-018-0714-6.
3
Exploring the Clinical and Genetic Spectrum of Steroid Resistant Nephrotic Syndrome: The PodoNet Registry.探索激素抵抗型肾病综合征的临床和基因谱：PodoNet注册研究
Front Pediatr. 2018 Jul 17;6:200. doi: 10.3389/fped.2018.00200. eCollection 2018.
4
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。
Kidney Int. 2017 Apr;91(4):937-947. doi: 10.1016/j.kint.2016.10.013. Epub 2017 Jan 20.
5
Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.胶原蛋白（COL4A）突变是成人局灶节段性肾小球硬化最常见的潜在突变。
Nephrol Dial Transplant. 2016 Jun;31(6):961-70. doi: 10.1093/ndt/gfv325. Epub 2015 Sep 7.
6
Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort.儿童类固醇抵抗性和先天性肾病综合征的谱系：PodoNet注册队列研究
Clin J Am Soc Nephrol. 2015 Apr 7;10(4):592-600. doi: 10.2215/CJN.06260614. Epub 2015 Jan 29.
7
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.29.5%的类固醇抵抗型肾病综合征病例由单基因引起。
J Am Soc Nephrol. 2015 Jun;26(6):1279-89. doi: 10.1681/ASN.2014050489. Epub 2014 Oct 27.
8
Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis.罕见的遗传性COL4A3/COL4A4变异可能被误诊为家族性局灶节段性肾小球硬化。
Kidney Int. 2014 Dec;86(6):1253-9. doi: 10.1038/ki.2014.305. Epub 2014 Sep 17.
9
Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.通过单链构象多态性检测X连锁遗传性肾炎中COL4A5基因的突变
Hum Mutat. 2001 Aug;18(2):141-8. doi: 10.1002/humu.1163.