Advances of monogenic kidney stone diseases associated with purine metabolism
10.3760/cma.j.cn112330-20211008-00531
- VernacularTitle:与嘌呤代谢相关的单基因肾结石病的研究进展
- Author:
Yukun LIU
1
;
Yucheng GE
;
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，北京 100050
- Keywords:
Kidney calculi;
Monogenic;
Purine metabolism
- From:
Chinese Journal of Urology
2022;43(2):156-160
- CountryChina
- Language:Chinese
-
Abstract:
Some kidney stones are caused by single gene mutations, and monogenic kidney stone diseases associated with purine metabolic disorder mainly including adenine phosphoribosyltransferase(APRT) deficiency, hypoxanthine-guanine phosphoribosyltransferase(HPRT)deficiency, hereditary xanthinuria(HX), and some diseases caused by gene mutations such as PRS1, SLC22A12, SLC2A9 and ABCG2. Such diseases can lead to abnormal metabolism of purine and uric acid, and then form 2, 8-dihydroxyadenine stones, uric acid stones or xanthine stones. This kind of diseases are rare, the genotype and phenotype of different types of monogenic diseases related to purine metabolism have their own characteristics and are not widely recognized. At present, the main treatment is medical therapy. Gene sequencing will make the diagnosis and find more disease-related genes or mutations. Gene editing, such as CRISPR/Cas9 technology, makes it possible to cure monogenic kidney stone diseases associated with purine metabolism disorder in the future.
