Systematic Assessment of Urinary Hydroxy-oxo-glutarate for Diagnosis and Follow-up of Primary Hyperoxaluria Type III

Overview

Journal Pediatr Nephrol

Specialties Nephrology
Pediatrics

Date 2017 Jul 17

PMID 28711958

Citations 11

Authors

Ada Ventzke

Markus Feldkotter

Andrew Wei

Jutta Becker

Bodo B Beck

Bernd Hoppe

Affiliations

Soon will be listed here.

Abstract

Background: There are currently three distinct autosomal recessive inherited types of primary hyperoxaluria (PH: PHI, PHII, and PHIII), all characterized by the endogenous overproduction of oxalate. The PH type is difficult to differentiate by clinical features alone. In addition to universal general characteristics to all hyperoxaluria subtypes, specific urinary metabolites can be detected: glycolate in PHI, L-glyceric acid in PHII, and hydroxy-oxo-glutarate (HOG) in PHIII. PHIII is considered to be the most benign form and is characterized by severe recurrent urolithiasis in early life, followed by clinical remission in many, but not all patients. We examined urinary HOG (U) excretion as a diagnostic marker and its correlation to progression of the clinical course of PHIII.

Methods: U was analyzed by combined ion chromatography/mass spectrometry (IC/MS) in urine samples from 30 PHIII and 68 PHI/II patients and 79 non-PH hyperoxaluria patients.

Results: Mean U excretion was significantly higher in patients with PHIII than in those with PHI/II and in non-PH patients(51.6 vs. 6.61 vs. 8.36 μmol/1.73 m/24 h, respectively; p<0.01).

Conclusions: Significantly elevated U excretion was exclusively seen in PHIII patients and showed a 100 % consensus with the results of hydroxy-oxo-glutarate aldolase (HOGA1) mutational analysis in newly diagnosed patients. However, U excretion did not correlate with clinical course on follow-up and could not be used to discriminate between active stone formers and patients with a clinically uneventful follow-up.

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