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肾结石形成的遗传框架。

The genetic framework for development of nephrolithiasis.

作者信息

Vasudevan Vinaya, Samson Patrick, Smith Arthur D, Okeke Zeph

机构信息

Smith Institute for Urology, Hofstra Northwell School of Medicine, Lake Success, NY, USA.

出版信息

Asian J Urol. 2017 Jan;4(1):18-26. doi: 10.1016/j.ajur.2016.11.003. Epub 2016 Nov 28.

Abstract

Over 1%-15% of the population worldwide is affected by nephrolithiasis, which remains the most common and costly disease that urologists manage today. Identification of at-risk individuals remains a theoretical and technological challenge. The search for monogenic causes of stone disease has been largely unfruitful and a technological challenge; however, several candidate genes have been implicated in the development of nephrolithiasis. In this review, we will review current data on the genetic inheritance of stone disease, as well as investigate the evolving role of genetic analysis and counseling in the management of nephrolithiasis.

摘要

全球超过1%至15%的人口受到肾结石的影响,肾结石仍是当今泌尿科医生治疗的最常见且成本最高的疾病。识别高危个体仍然是一项理论和技术挑战。寻找结石病的单基因病因在很大程度上没有成果且是一项技术挑战;然而,几个候选基因已被认为与肾结石的发生有关。在本综述中,我们将回顾关于结石病遗传方式的现有数据,并探讨遗传分析和咨询在肾结石治疗中不断演变的作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d916/5730897/76cdf8b383cf/gr1.jpg

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