Advances in the gene therapy of primary hyperoxaluria
10.3760/cma.j.cn112330-20211123-00605
- VernacularTitle:原发性高草酸尿症的基因治疗进展
- Author:
Yukun LIU
1
;
Ruichao ZHAN
;
Yucheng GE
;
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:
Hyperoxaluria, primary;
Kidney stone;
Gene therapy
- From:
Chinese Journal of Urology
2023;44(3):237-240
- CountryChina
- Language:Chinese
-
Abstract:
Primary hyperoxaluria (PH) is a rare autosomal recessive hereditary disease, characterized by calcium oxalate kidney stone and nephrocalcinosis caused by defects in enzymes of liver glyoxylate metabolism. Up to now, treatment options for PH are limited. Although medication treatment and liver transplantation can slow down the progression and mitigate the symptoms, the evidence for them turned out to be weak. In recent years, breakthroughs in biotechnology provide novel promising directions for drug development. Small interfering RNA drugs, such as lumasiran and nedosiran, selectively reduce hepatic expression of glycolate oxidase and lactate dehydrogenase respectively, reducing hepatic oxalate production and urinary oxalate levels in PH patients. Gene-editing, such as CRISPR/Cas9, will be a potential treatment method of PH. This review encompasses recent developments in the gene therapy of PH.
