活检确诊的肾脏疾病中的基因检测 - Suppr

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

The Phenotypic Spectrum of Heterozygotes.

Kidney Int Rep. 2023 Jul 25;8(10):2088-2099. doi: 10.1016/j.ekir.2023.07.010. eCollection 2023 Oct.

Genetic Etiologies for Chronic Kidney Disease Revealed through Next-Generation Renal Gene Panel.

Am J Nephrol. 2022;53(4):297-306. doi: 10.1159/000522226. Epub 2022 Mar 24.

Genetics-first approach improves diagnostics of ESKD patients <50 years old.

Nephrol Dial Transplant. 2022 Jan 25;37(2):349-357. doi: 10.1093/ndt/gfaa363.

Introducing routine genetic testing for patients with CKD.

Nat Rev Nephrol. 2019 Jun;15(6):321-322. doi: 10.1038/s41581-019-0140-9.

Monogenic causes of chronic kidney disease in adults.

Kidney Int. 2019 Apr;95(4):914-928. doi: 10.1016/j.kint.2018.10.031. Epub 2019 Feb 14.

Diagnostic Utility of Exome Sequencing for Kidney Disease.

N Engl J Med. 2019 Jan 10;380(2):142-151. doi: 10.1056/NEJMoa1806891. Epub 2018 Dec 26.

Reduced INF2 expression in nephrotic syndrome is possibly related to clinical severity of steroid resistance in children.

Nephrology (Carlton). 2016 Jun;21(6):467-75. doi: 10.1111/nep.12627.

Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation.

Kidney Int. 2000 Nov;58(5):1870-5. doi: 10.1111/j.1523-1755.2000.00358.x.

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Genetic Testing in Biopsy-Confirmed Kidney Disease.

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

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Clin J Am Soc Nephrol. 2022 Jan;17(1):27-37. doi: 10.2215/CJN.09380721. Epub 2021 Nov 10.

Utility of Genomic Testing after Renal Biopsy.

Am J Nephrol. 2020;51(1):43-53. doi: 10.1159/000504869. Epub 2019 Dec 10.

[Clinical features and genetic variants of Dent disease in 10 children].

Zhonghua Er Ke Za Zhi. 2018 Apr 2;56(4):289-293. doi: 10.3760/cma.j.issn.0578-1310.2018.04.010.

Integration of genetic and histopathology data in interpretation of kidney disease.

Nephrol Dial Transplant. 2020 Jul 1;35(7):1113-1132. doi: 10.1093/ndt/gfaa176.

Reclassification of Genetic Testing Results: A Case Report Demonstrating the Need for Structured Re-Evaluation of Genetic Findings.

Can J Kidney Health Dis. 2024 Apr 14;11:20543581241242562. doi: 10.1177/20543581241242562. eCollection 2024.

Autosomal-dominant tubulointerstitial kidney disease with a novel UMOD mutation, overlapping with Sjogren's syndrome: a case report.

CEN Case Rep. 2025 Apr;14(2):113-118. doi: 10.1007/s13730-024-00915-w. Epub 2024 Jul 16.

Vignette-Based Reflections to Inform Genetic Testing Policies in Living Kidney Donors.

Genes (Basel). 2022 Mar 26;13(4):592. doi: 10.3390/genes13040592.

Diagnostic utility of genetic testing in patients undergoing renal biopsy.

Cold Spring Harb Mol Case Stud. 2020 Oct 7;6(5). doi: 10.1101/mcs.a005462. Print 2020 Oct.

Clinical follow-up of 2 families with glomerulopathy caused by gene variants and literature review.

Front Pediatr. 2025 Jan 14;12:1378083. doi: 10.3389/fped.2024.1378083. eCollection 2024.

本文引用的文献

The Phenotypic Spectrum of Heterozygotes.

Kidney Int Rep. 2023 Jul 25;8(10):2088-2099. doi: 10.1016/j.ekir.2023.07.010. eCollection 2023 Oct.

Genetic Etiologies for Chronic Kidney Disease Revealed through Next-Generation Renal Gene Panel.

Am J Nephrol. 2022;53(4):297-306. doi: 10.1159/000522226. Epub 2022 Mar 24.

Genetics-first approach improves diagnostics of ESKD patients <50 years old.

Nephrol Dial Transplant. 2022 Jan 25;37(2):349-357. doi: 10.1093/ndt/gfaa363.

Introducing routine genetic testing for patients with CKD.

Nat Rev Nephrol. 2019 Jun;15(6):321-322. doi: 10.1038/s41581-019-0140-9.

Monogenic causes of chronic kidney disease in adults.

Kidney Int. 2019 Apr;95(4):914-928. doi: 10.1016/j.kint.2018.10.031. Epub 2019 Feb 14.

Diagnostic Utility of Exome Sequencing for Kidney Disease.

N Engl J Med. 2019 Jan 10;380(2):142-151. doi: 10.1056/NEJMoa1806891. Epub 2018 Dec 26.

Reduced INF2 expression in nephrotic syndrome is possibly related to clinical severity of steroid resistance in children.

Nephrology (Carlton). 2016 Jun;21(6):467-75. doi: 10.1111/nep.12627.

Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation.

Kidney Int. 2000 Nov;58(5):1870-5. doi: 10.1111/j.1523-1755.2000.00358.x.

Genetic Testing in Biopsy-Confirmed Kidney Disease.

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Genetic Testing in Biopsy-Confirmed Kidney Disease.

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