ArticlePediatric nephrology (Berlin, Germany)2018
Metabolite diagnosis of primary hyperoxaluria type 3.
Article in Pediatric nephrology (Berlin, Germany), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 21 citations in OpenAlex.
- Differential clinical characteristics of Chinese children with primary hyperoxaluria type 3.Pediatric nephrology (Berlin, Germany) · 2026Article
- Advances in metabolomics profiling of pediatric kidney diseases: A review.Biomolecules & biomedicine · 2024Review
- 4-hydroxy-2-oxoglutarate metabolism in a mouse model of Primary Hyperoxaluria Type 3.Biochemistry and biophysics reports · 2024Article
- Mutation Characteristics of Primary Hyperoxaluria in the Chinese Population and Current International Diagnosis and Treatment Status.Kidney diseases (Basel, Switzerland) · 2024Review
- Primary Hyperoxaluria Screening and Monitoring: Quantitative Measurement of Plasma Oxalate by Gas Chromatography-Mass Spectrometry With High Sensitivity.Annals of laboratory medicine · 2024Article
- Metabolomics distinguishes different grades ofHeliyon · 2024Article
- Genetic susceptibility of urolithiasis: comprehensive results from genome-wide analysis.World journal of urology · 2024Article
- Review
- Primary hyperoxaluria: the adult nephrologist's point of view.Clinical kidney journal · 2022Review
- Clinical characterization of primary hyperoxaluria type 3 in comparison with types 1 and 2.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2022Article
- The genetics of kidney stone disease and nephrocalcinosis.Nature reviews. Nephrology · 2022Review
- New Insights from Metabolomics in Pediatric Renal Diseases.Children (Basel, Switzerland) · 2022Review
- Primary Hyperoxaluria Type 3 Can Also Result in Kidney Failure: A Case Report.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2022Article
- Nine novel HOGA1 gene mutations identified in primary hyperoxaluria type 3 and distinct clinical and biochemical characteristics in Chinese children.Pediatric nephrology (Berlin, Germany) · 2019Observational
Corrections and comments
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Authors and funding
7 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrimary hyperoxaluria type 3 (PH3) is a recently described cause of childhood renal calculi. It results from mutations in the HOGA1 gene and most cases have been diagnosed after clinical ascertainment, exclusion of other genetic hyperoxalurias and mutation testing. Metabolite testing has not been widely applied but holds promise for the rapid screening and diagnosis of patients who are not specifically suspected to have PH3. CASE-DIAGNOSIS/TREATMENT: Two cases presented with renal calculi. Urine metabolite testing by tandem mass spectrometry was performed as part of the routine diagnostic work-up for this condition. Both had significantly increased levels of the PH3 urine marker 4-hydroxyglutamate and related metabolites. The diagnosis of PH3 was confirmed by the finding of bi-allelic damaging HOGA1 mutations.
conclusionsUrine screening by tandem mass spectrometry is a rapid, high-throughput test that can detect PH3 cases that may otherwise not be diagnosed.
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