Core updates interpretation of the 2025 EAU guidelines on urolithiasis: focus on genetic factors and testing of urolithiasis
10.3760/cma.j.cn112330-20250604-00232
- VernacularTitle:2025 版 EAU 尿石症指南核心更新解读：聚焦尿石症遗传因素和检测
- Author:
Yonghan PENG
1
;
Xiaofeng GAO
1
Author Information
1. 海军军医大学第一附属医院泌尿外科，上海 200433
- Publication Type:Journal Article
- Keywords:
Urolithiasis;
Diagnosis;
Genetics
- From:
Chinese Journal of Urology
2025;46(10):725-727
- CountryChina
- Language:Chinese
-
Abstract:
The core update of the 2025 edition of the European Association of Urology（EAU）Guidelines on Urolithiasis is reflected in the addition of a new section titled "Genetic Factors and Testing"，which systematically defines the clinical application standards for genetic testing in urolithiasis. Given the significant impact of genetic factors on the pathogenesis of urolithiasis，the guidelines recommend genetic testing for specific populations，including urolithiasis patients aged ≤ 25 years，adult patients aged > 25 years with suspected hereditary or metabolic diseases，patients with recurrent stones，bilateral stones，or a family history of urolithiasis. In terms of testing technology，the guidelines suggest using next-generation sequencing（NGS）technology to identify pathogenic genetic variants，while emphasizing that testing should be combined with patients’ metabolic assessment and professional genetic counseling to improve diagnostic accuracy. If hereditary urolithiasis is confirmed，further genetic screening of the patient’s family members is required. The guideline update of this newly added section provides precise guidance on genetic testing for the clinical diagnosis and treatment of urolithiasis，which is conducive to promoting the practice of personalized treatment for urolithiasis and thereby improving the clinical diagnosis and treatment.
