ArticlePediatric nephrology (Berlin, Germany)2015
Renal function can be impaired in children with primary hyperoxaluria type 3.
Article in Pediatric nephrology (Berlin, Germany), 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 40 citations in OpenAlex.
- Identification of Primary Hyperoxaluria Type III by Gas Chromatography/Mass Spectrometry-Based Urine Metabolomics.Metabolites · 2026Article
- Differential clinical characteristics of Chinese children with primary hyperoxaluria type 3.Pediatric nephrology (Berlin, Germany) · 2026Article
- Real-world burden of primary hyperoxaluria with chronic kidney disease in the United States: a retrospective administrative claims analysis.BMC nephrology · 2025Observational
- Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported.Clinical kidney journal · 2025Article
- PHYOX3: Nedosiran Long-Term Safety and Efficacy in Patients With Primary Hyperoxaluria Type 1.Kidney international reports · 2025Article
- Primary hyperoxaluria type 3: from infancy to adulthood in a genetically unique cohort.Pediatric nephrology (Berlin, Germany) · 2025Article
- Nedosiran Safety and Efficacy in PH1: Interim Analysis of PHYOX3.Kidney international reports · 2024Article
- Oxalate Nephropathy and the Mechanism of Oxalate-Induced Kidney Injury.Kidney diseases (Basel, Switzerland) · 2023Review
- Nedosiran in primary hyperoxaluria subtype 3: results from a phase I, single-dose study (PHYOX4).Urolithiasis · 2023Article
- Healthcare utilization, quality of life, and work productivity associated with primary hyperoxaluria: a cross-sectional web-based US survey.Urolithiasis · 2023Article
- Genotype and Phenotype Characteristics of Chinese Pediatric Patients with Primary Hyperoxaluria.Human mutation · 2023Article
- Therapeutic RNA interference: A novel approach to the treatment of primary hyperoxaluria.British journal of clinical pharmacology · 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
- 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
- Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.Disease markers · 2022Article
- Possible ethnic associations in primary hyperoxaluria type-III-associated HOGA1 sequence variants.Molecular biology reports · 2021Review
- Calcium oxalate crystal deposition in the kidney: identification, causes and consequences.Urolithiasis · 2020Review
- 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
- Identification of 8 novel gene variants in primary hyperoxaluria in 21 Chinese children with urinary stones.World journal of urology · 2019Article
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Authors and funding
11 authors at 10 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrimary hyperoxaluria type 3 (PH3) is characterized by mutations in the 4-hydroxy-2-oxoglutarate aldolase (HOGA1) gene. PH3 patients are believed to present with a less severe phenotype than those with PH1 and PH2, but the clinical characteristics of PH3 patients have yet to be defined in sufficient detail. The aim of this study was to report our experience with PH3.
methodsGenetic analysis of HOGA1 was performed in patients with a high clinical suspicion of PH after the presence of mutations in the alanine-glyoxylate aminotransferase gene had been ruled out. Clinical, biochemical and genetic data of the seven patients identified with HOGA1 mutations were subsequently retrospectively reviewed.
resultsAmong the seven patients identified with HOGA1 mutations the median onset of clinical symptoms was 1.8 (range 0.4-9.8) years. Five patients initially presented with urolithiasis, and two other patients presented with urinary tract infection. All patients experienced persistent hyperoxaluria. Seven mutations were found in HOGA1, including two previously unreported ones, c.834 + 1G > T and c.3G > A. At last follow-up, two patients had impaired renal function based on estimated glomerular filtration rates (GFRs) of 77 and 83 mL/min per 1.73 m(2), respectively.
conclusionsWe found that the GFR was significantly impaired in two of our seven patients with PH3 diagnosed during childhood. This finding is in contrast to the early-impaired renal function in PH1 and PH2 and appears to refute to preliminary reassuring data on renal function in PH3.
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