Ventzke, Ada, Feldkoetter, Markus, Wei, Andrew, Becker, Jutta, Beck, Bodo B. and Hoppe, Bernd (2017). Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow-up of primary hyperoxaluria type III. Pediatr. Nephrol., 32 (12). S. 2263 - 2272. NEW YORK: SPRINGER. ISSN 1432-198X

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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-HOG) excretion as a diagnostic marker and its correlation to progression of the clinical course of PHIII. Methods U-HOG 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-HOG 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 mu mol/1.73 m(2)/24 h, respectively; p< 0.01). Conclusions Significantly elevated UHOG excretion was exclusively seen in PHIII patients and showed a 100 % consensus with the results of hydroxy-oxo-glutarate aldolaseHOGA1) mutational analysis in newly diagnosed patients. However, U-HOG 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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Ventzke, AdaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Feldkoetter, MarkusUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wei, AndrewUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Becker, JuttaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beck, Bodo B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hoppe, BerndUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-210767
DOI: 10.1007/s00467-017-3731-3
Journal or Publication Title: Pediatr. Nephrol.
Volume: 32
Number: 12
Page Range: S. 2263 - 2272
Date: 2017
Publisher: SPRINGER
Place of Publication: NEW YORK
ISSN: 1432-198X
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
PYRIDOXINE; OXALATE; CITRATEMultiple languages
Pediatrics; Urology & NephrologyMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/21076

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