Second transplantation after kidney graft loss in primary hyperoxaluria type 2: a pedigree study and mutation analysis.

ABSTRACT:

Background

Primary hyperoxaluria type 2 (PH2) is a rare disorder caused by GRHPR mutations. Research on the mutation spectrum and pedigree of PH2 helps in comprehending its pathogenesis and clinical outcomes, guiding clinical diagnosis and treatment.

Methods

We report a case of PH2 with a three-generational pedigree. The GRHPR genotypes of the family members were confirmed by Sanger sequencing. Urine and blood samples were collected for biochemical analysis. Computational analysis was performed to assess the pathogenicity of the mutations. Cellular experiments based on site-directed mutagenesis were conducted to confirm the effect of mutations on GRHPR expression, activity, and subcellular localization.

Results

The proband underwent her first kidney tran

SUBMITTER: Peng Y 

PROVIDER: S-EPMC11504218 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature