Clinical spectrum of primary hyperoxaluria type 1: Experience of a tertiary center.

ABSTRACT:

Background and aim

Primary hyperoxalurias are rare inborn errors of metabolism resulting in increased endogenous production of oxalate that leads to excessive urinary oxalate excretion. Diagnosis of primary hyperoxaluria type 1 (PH1) is a challenging issue and depends on diverse diagnostic tools including biochemical analysis of urine, stone analysis, renal biopsy, genetic studies and in some cases liver biopsy for enzyme assay. We characterized the clinical presentation as well as renal and extrarenal phenotypes in PH1 patients.

Methods

This descriptive cohort study included patients with presumable PH1 presenting with nephrolithiasis and/or nephrocalcinosis (NC). Precise clinical characterization of renal phenotype as well as systemic involvement is reported. AGXT mutation

SUBMITTER: Soliman NA 

PROVIDER: S-EPMC5921832 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature