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拓展机遇与应对新挑战:拓宽肾脏病学基因检测范围

Expanding opportunities and emerging challenges: broadening the scope of genetic testing in nephrology.

机构信息

Department of Medicine, Division of Nephrology, Columbia University, New York, New York, USA.

Department of Medicine, Division of Nephrology, Columbia University, New York, New York, USA; Institute for Genomic Medicine, Columbia University, New York, New York, USA.

出版信息

Kidney Int. 2019 Apr;95(4):743-746. doi: 10.1016/j.kint.2018.12.032.

Abstract

Massively parallel sequencing technologies such as exome sequencing are increasingly applied across medicine. Connaughton et al. report a high diagnostic yield of exome sequencing among adults with hereditary nephropathy or nephropathy of unknown cause. Their findings support broader use of genomic sequencing in nephrology and highlight key associated questions, including how to identify those patients for whom testing is indicated, pinpoint pathogenic variants, and balance the resultant health care benefits and clinical follow-up burden.

摘要

高通量测序技术,如外显子组测序,在医学领域的应用越来越广泛。Connaughton 等人报告称,在外显子组测序中,遗传性肾病或病因不明的肾病患者的诊断率很高。他们的发现支持在肾脏病学中更广泛地应用基因组测序,并突出了关键的相关问题,包括如何确定需要检测的患者,确定致病性变异,以及平衡由此产生的医疗保健效益和临床随访负担。

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本文引用的文献

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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.
7
Exploring the genetic basis of early-onset chronic kidney disease.探索早发性慢性肾脏病的遗传基础。
Nat Rev Nephrol. 2016 Mar;12(3):133-46. doi: 10.1038/nrneph.2015.205. Epub 2016 Jan 11.

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