Filippova T V, Litvinova M M, Rudenko V I, Gadzhieva Z K, Rapoport L M, Kazilov Yu B, Asanov A Yu, Subbotina T I, Khafizov K F
I.M. Sechenov First MSMU of Minzdrav of Russia, Moscow, Russia.
CRI of Epidemiology of Rospotrebnadzor, Moscow, Russia.
Urologiia. 2018 Oct(4):154-160.
The article presents pooled results of domestic and international studies investigating genetic aspects of urolithiasis associated with impaired calcium metabolism. The review highlights the importance of early and accurate diagnosis of hereditary diseases associated with kidney stone formation. Of more than 80 currently known monogenic forms of urolithiasis, the authors provide the list of the most significant forms. Using such molecular genetic methods as NGS (next generation sequencing) allows accurate detection of the genetic cause of the disease, develop an individual approach the patients management and timely prevention of the disease among the relatives of the proband.
本文介绍了国内外关于钙代谢受损相关尿路结石遗传因素研究的汇总结果。该综述强调了与肾结石形成相关的遗传性疾病早期准确诊断的重要性。在目前已知的80多种单基因形式的尿路结石中，作者列出了最重要的几种形式。使用诸如二代测序（NGS）等分子遗传学方法能够准确检测疾病的遗传病因，制定针对患者管理的个体化方法，并在先证者亲属中及时预防该疾病。
