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Genetic Testing in Biopsy-Confirmed Kidney Disease.

作者信息

Schmidt Insa M, Verma Ashish, Claudel Sophie E, Palsson Ragnar, Srivastava Anand, Stillman Isaac E, Beck Laurence H, Waikar Sushrut S

机构信息

Section of Nephrology, Department of Medicine, Boston University Chobanian and Avedisian School of Medicine and Boston Medical Center, Boston, MA.

Hamburg Center for Kidney Health (HCKH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

出版信息

Kidney Med. 2025 Mar 17;7(5):100994. doi: 10.1016/j.xkme.2025.100994. eCollection 2025 May.

DOI:10.1016/j.xkme.2025.100994
PMID:40321977
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12049994/
Abstract
摘要

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本文引用的文献

1
The Phenotypic Spectrum of Heterozygotes.杂合子的表型谱
Kidney Int Rep. 2023 Jul 25;8(10):2088-2099. doi: 10.1016/j.ekir.2023.07.010. eCollection 2023 Oct.
2
Genetic Etiologies for Chronic Kidney Disease Revealed through Next-Generation Renal Gene Panel.通过下一代肾脏基因panel 揭示慢性肾脏病的遗传病因。
Am J Nephrol. 2022;53(4):297-306. doi: 10.1159/000522226. Epub 2022 Mar 24.
3
Genetics-first approach improves diagnostics of ESKD patients <50 years old.遗传优先方法提高了<50 岁的终末期肾病患者的诊断水平。
Nephrol Dial Transplant. 2022 Jan 25;37(2):349-357. doi: 10.1093/ndt/gfaa363.
4
Introducing routine genetic testing for patients with CKD.为慢性肾脏病患者引入常规基因检测。
Nat Rev Nephrol. 2019 Jun;15(6):321-322. doi: 10.1038/s41581-019-0140-9.
5
Monogenic causes of chronic kidney disease in adults.成人慢性肾脏病的单基因病因。
Kidney Int. 2019 Apr;95(4):914-928. doi: 10.1016/j.kint.2018.10.031. Epub 2019 Feb 14.
6
Diagnostic Utility of Exome Sequencing for Kidney Disease.外显子组测序在肾脏疾病诊断中的应用。
N Engl J Med. 2019 Jan 10;380(2):142-151. doi: 10.1056/NEJMoa1806891. Epub 2018 Dec 26.
7
Reduced INF2 expression in nephrotic syndrome is possibly related to clinical severity of steroid resistance in children.肾病综合征中INF2表达降低可能与儿童类固醇抵抗的临床严重程度有关。
Nephrology (Carlton). 2016 Jun;21(6):467-75. doi: 10.1111/nep.12627.
8
Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation.由COL4A3剪接位点突变引起的常染色体显性遗传性奥尔波特综合征。
Kidney Int. 2000 Nov;58(5):1870-5. doi: 10.1111/j.1523-1755.2000.00358.x.