Monogenic nephrolithiasis
10.3760/cma.j.cn101070-20200119-00080
- VernacularTitle:单基因肾结石病
- Author:
Yucheng GE
1
;
Ruichao ZHAN
;
Wenying WANG
Author Information
1. 首都医科大学附属北京友谊医院泌尿外科 100050
- From:
Chinese Journal of Applied Clinical Pediatrics
2020;35(9):667-670
- CountryChina
- Language:Chinese
-
Abstract:
In recent years, multiple monogenic causes of nephrolithiasis have been identified.Monogenic nephrolithiasis can lead to renal calculus, nephrocalcinosis, extrarenal manifestations, renal insufficiency and renal failure.Advances in genetic testing techniques have improved the ability to obtain a definitive diagnosis of monogenic causes of kidney stone diseases efficiently and effectively.Similarly, advances in gene therapy technologies, especially gene editing, promise to change the way to treat patients with monogenic inherited nephrolithiasis.Now, the classification, cha-racteristics of genotype and phenotype, and the treatment of monogenic causes of nephrolithiasis were reviewed.
