Research progress on genotype and phenotype of primary hyperoxaluria type 3

VernacularTitle:原发性高草酸尿症3型基因型和表型研究进展
Author: Zhenqiang ZHAO ¹ ; Yucheng GE ; Yukun LIU ; 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 calculi; Genotype; Phenotype
From: International Journal of Surgery 2024;51(2):133-137
CountryChina
Language:Chinese
Abstract: Primary hyperoxaluria type 3 (PH3) is a rare monogenic nephrolithiasis caused by HOGA1 gene mutations. With the advancement of technology of genetic testing, the mutation site of PH3 patients can be clearly located, and the characteristics of genotype, phenotype, genotype-phenotype correlations are also gradually recognized. With the development of gene therapy, novel gene editing techniques and RNA interference treatments offer hope for the future of PH3 treatment. In this paper, the characteristics of genotype and phenotype, genotype-phenotype correlations of PH3 will be summarized and its future treatment will be prospected.