Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium.

ABSTRACT:

Introduction

Primary hyperoxaluria type 1 (PH1) has a highly heterogeneous disease course. Apart from the c.508G>A (p.Gly170Arg) AGXT variant, which imparts a relatively favorable outcome, little is known about determinants of kidney failure. Identifying these is crucial for disease management, especially in this era of new therapies.

Methods

In this retrospective study of 932 patients with PH1 included in the OxalEurope registry, we analyzed genotype-phenotype correlations as well as the impact of nephrocalcinosis, urolithiasis, and urinary oxalate and glycolate excretion on the development of kidney failure, using survival and mixed model analyses.

Results

The risk of developing kidney failure was the highest for 175 vitamin-B6 unresponsive ("null") homozygot

SUBMITTER: Metry EL 

PROVIDER: S-EPMC10577369 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature