ArticleKidney international2020
Clinical features of genetically confirmed patients with primary hyperoxaluria identified by clinical indication versus familial screening.
Article in Kidney international, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
17 citing papers in PubMed, 25 citations in OpenAlex.
- Clinical Approaches and Emerging Therapeutic Horizons in Primary Hyperoxaluria.Journal of clinical medicine · 2026Review
- Current status of primary hyperoxaluria type 1 in Japan.Urolithiasis · 2026Review
- Urolithiasis in Children-Clinical Picture, Pathogenesis, and Diagnostic Approach.Biomolecules · 2026Review
- Genetic and Clinical Characterization of a Large Cohort with Suspected Monogenic Stone Disease.Clinical journal of the American Society of Nephrology : CJASN · 2025Article
- Review
- Diagnosis and management of primary hyperoxalurias: best practices.Pediatric nephrology (Berlin, Germany) · 2024Review
- Intrafamilial Disease Heterogeneity in Primary Hyperoxaluria Type 1.Kidney international reports · 2024Article
- Primary hyperoxaluria in adults and children: a nationwide cohort highlights a persistent diagnostic delay.Clinical kidney journal · 2024Article
- Beyond the kidney: extra-renal manifestations of monogenic nephrolithiasis and their significance.Pediatric nephrology (Berlin, Germany) · 2024Review
- Young Male With End-Stage Renal Disease Due to Primary Hyperoxaluria Type 2: A Rare Presentation.Cureus · 2023Article
- The real world experience of pediatric primary hyperoxaluria patients in the PEDSnet clinical research network.European journal of pediatrics · 2023Article
- Characterization of Stone Events in Patients With Type 3 Primary Hyperoxaluria.The Journal of urology · 2023Article
- Genetic Susceptibility to Chronic Kidney Disease: Links, Risks and Management.International journal of nephrology and renovascular disease · 2023Review
- Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry.Kidney international reports · 2022Article
- 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
- Clinical and economic impact of primary hyperoxaluria: a retrospective claims analysis.Journal of managed care & specialty pharmacy · 2022Article
- Case report: Acute oxalate nephropathy due to traditional medicinal herbs.Frontiers in medicine · 2022Article
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
Abstract
Primary hyperoxaluria is a rare monogenic disorder characterized by excessive hepatic production of oxalate leading to recurrent nephrolithiasis, nephrocalcinosis, and progressive kidney damage. Most patients with primary hyperoxaluria are diagnosed after clinical suspicion based on symptoms. Since some patients are detected by family screening following detection of an affected family member, we compared the clinical phenotype of these two groups. Patients with primary hyperoxaluria types 1, 2, and 3 enrolled in the Rare Kidney Stone Consortium Primary Hyperoxaluria Registry were retrospectively analyzed following capture of clinical and laboratory results in the Registry. Among 495 patients with primary hyperoxaluria, 47 were detected by family screening. After excluding 150 patients with end stage kidney disease at diagnosis, 300 clinical suspicion and 45 family screening individuals remained. Compared to patients with clinical suspicion, those identified by family screening had significantly fewer stones at diagnosis (mean 1.2 vs. 3.6), although initial symptoms occurred at a similar age (median age 6.1 vs. 7.6 years). Urinary oxalate did not differ between these groups. The estimated glomerular filtration rate at diagnosis and its decline over time were similar for the two groups. Altogether, five of 45 in family screening and 67 of 300 of clinical suspicion individuals developed end stage kidney disease at last follow-up. Thus, patients with primary hyperoxaluria identified through family screening have significant disease despite no outward clinical suspicion at diagnosis. Since promising novel treatments are emerging, genetic screening of family members is warranted because they are at significant risk for disease progression.
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