Research progress on genotype and phenotype of primary hyperoxaluria
10.3760/cma.j.cn115396-20200319-00072
- VernacularTitle:原发性高草酸尿症基因型与表型的研究进展
- Author:
Ruichao ZHAN
;
Yucheng GE
;
Daoxin ZHANG
;
Wenying WANG
- From:
International Journal of Surgery
2021;48(3):203-207
- CountryChina
- Language:Chinese
-
Abstract:
Primary hyperoxaluria (PH) are important causes of kidney stone and chronic kidney stone disease in children. Recurrent kidney stone disease and nephrocalcinosis should alter the physician to the possibility of an inborn error of metabolism as the underlying cause. Unfortunately, the lack of recognition of genotype and phenotype of PH resulted in an unacceptable delay in diagnosis and treatment, sometimes with grave consequences. This paper review the characteristics of genotype and phenotype, genotype-phenotype correlation, current treatment and future gene therapy of PH.
