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The genetic framework for development of nephrolithiasis

机译:肾结石病发展的遗传框架

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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.
机译:全世界有1%-15%的人口受到肾结石病的影响,肾结石病仍然是当今泌尿科医师管理的最常见和代价最高的疾病。识别高危人群仍然是一项理论和技术挑战。寻找导致结石病的单基因原因在很大程度上是徒劳的,也是一项技术挑战。然而,一些候选基因与肾结石病的发展有关。在这篇综述中,我们将回顾有关结石病遗传遗传的最新数据,并研究遗传分析和咨询在肾结石病管理中的作用。

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