含钙尿路结石病单核苷酸多态性研究进展

崔建伟; 白云金; 尹山; 王佳豪; 魏武然; 王佳

doi:10.13201/j.issn.1001-1420.2021.08.014

含钙尿路结石病单核苷酸多态性研究进展

- 四川大学华西医院泌尿外科四川大学华西医院泌尿外科研究所(成都, 610041)
基金项目:
四川大学华西医院学科卓越发展1·3·5工程项目(No:ZY2016104)

四川大学专职博士后研发基金(No:2020SCU12039)

详细信息

通讯作者: 王佳,E-mail:wangjiawch@163.com

中图分类号: R691.4

收稿日期: 2020-04-30

Research progress on single nucleotide polymorphisms of calcium-containing urolithiasis

- Department of Urology, Institute of Urology, West China Hospital, Sichuan University, Chengdu, 610041, China

More Information

Corresponding author: WANG Jia, E-mail: wangjiawch@163.com

Received Date: 30 April 2020

摘要

摘要: 尿路结石病是一种高发病率、高复发率及高花费性疾病,其中含钙结石占80%以上。目前对于尿石症的流行病学、发病基础及临床治疗的研究探讨已有巨大进展,近些年随着高通量基因测序技术的出现及推广,结石病变异基因的检出率日益增高。本文通过总结含钙尿路结石病在单核苷酸多态性方面的最新研究进展,希望有助于人们全面而深入地认识和理解泌尿系结石病,进而有益于精准而高效地诊断、治疗以及预防尿石症。
- 尿路结石病 /
- 单核苷酸多态性 /
- 高钙尿 /
- 遗传 /
- 基因
Abstract: Urolithiasis is a disease with high prevalence, high recurrence rate and high cost, of which calcium stones account for more than 80%. At present, while great progress has been made in the research on the epidemiology, pathogenesis and treatment of urolithiasis, the detection rate of variant gene about urolithiasis is increasing gradually because of the emergence and promotion of high-throughput sequencing technology. This article summarizes the latest research progress in single nucleotide polymorphisms of calcium-containing urolithiasis, hoping to contribute to the comprehensive and in-depth understanding of urolithiasis, and more importantly to the accurate and efficient diagnosis, treatment and prevention of urinary lithiasis.
- urolithiasis /
- single nucleotide polymorphisms /
- hypercalciuria /
- hereditary /
- gene

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