Research progress on genotype and phenotype of primary hyperoxaluria / 国际外科学杂志

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.