ArticleJournal of the American Society of Nephrology : JASN2015
Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.
Article in Journal of the American Society of Nephrology : JASN, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05843851 (Scientific Basis for a Newborn Screening for Cystinosis and Primary Hyperoxaluria), which is not on this map. Cited by 162 papers, 2 of them syntheses that pooled it.
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Scientific Basis for a Newborn Screening for Cystinosis and Primary Hyperoxaluria
Who cites it
162 citing papers in PubMed, 2 syntheses or guidelines pooled it, 258 citations in OpenAlex.
- Clinical features and mutational spectrum of Chinese patients with primary hyperoxaluria type 2.Urolithiasis · 2024Pooled it
- Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population: Results from a Single Center Study and a Systematic Review.Current medical science · 2018Pooled it
- Efficacy and safety of lumasiran for infants and young children with primary hyperoxaluria type 1: 12-month analysis of the phase 3 ILLUMINATE-B trial.Pediatric nephrology (Berlin, Germany) · 2023Trial
- A randomised Phase II/III study to evaluate the efficacy and safety of orally administered Oxalobacter formigenes to treat primary hyperoxaluria.Urolithiasis · 2018Trial
- A randomised Phase I/II trial to evaluate the efficacy and safety of orally administered Oxalobacter formigenes to treat primary hyperoxaluria.Pediatric nephrology (Berlin, Germany) · 2017Trial
- A Case Report of Primary Hyperoxaluria Type 1 Diagnosed in a Geriatric Patient Receiving Dialysis: Unique Clinical Course With Lumasiran.Kidney medicine · 2026Article
- Systemic Oxalosis Mimicking Transthyretin Amyloid Cardiomyopathy: A Cause of False Positive Tc-99m PYP Scintigraphy.JACC. Case reports · 2026Article
- Clinical and molecular spectrum of primary hyperoxaluria type 1 in Tunisia: pediatric presentation and minimum observed prevalence.Pediatric nephrology (Berlin, Germany) · 2026Article
- Mutational Landscape of Primary Hyperoxaluria in Morocco: Update and Implications for Diagnosis.Genes · 2026Article
- Increased awareness around an ultra-rare disease can improve diagnosis delays: the French example in primary hyperoxalurias.Orphanet journal of rare diseases · 2026Article
- Primary hyperoxaluria type 1-current practice in the siRNA era: an ERA Genes & Kidney Working Group survey.Clinical kidney journal · 2026Article
- How variant discovery redefines genetic prevalence: the case of cystine stone disease.European journal of human genetics : EJHG · 2026Article
- Targeting the Highly Deleterious G161C and Y260C SNP Variants of the AGXT Protein Involved in Glyoxylate Metabolism Using Tauroursodeoxycholic Acid: A Computational Study.International journal of molecular sciences · 2026Article
- Oxalate Nephropathy in a Patient With Chronic Pancreatitis and Recent Surgery: A Clinical Conundrum.Kidney medicine · 2026Article
- Differential clinical characteristics of Chinese children with primary hyperoxaluria type 3.Pediatric nephrology (Berlin, Germany) · 2026Article
- Steroid hormones and nephrolithiasis: regulation of urine components metabolism and inflammation.Biology of sex differences · 2026Review
- Clinical Approaches and Emerging Therapeutic Horizons in Primary Hyperoxaluria.Journal of clinical medicine · 2026Review
- Kidney stone disease: risk factors, pathophysiology and management.Nature reviews. Nephrology · 2025Review
- Primary hyperoxaluria type 1 diagnosis in adult dialysis patients: prediction model assessment in a group of Italian patients.Journal of nephrology · 2025Article
- Primary hyperoxaluria: insights into its clinical presentation, genetic mutations, and transplantation outcomes in a pediatric population in a tertiary care center.Orphanet journal of rare diseases · 2025Article
102 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
Primary hyperoxaluria (PH) is a rare autosomal recessive disease characterized by oxalate accumulation in the kidneys and other organs. Three loci have been identified: AGXT (PH1), GRHPR (PH2), and HOGA1 (PH3). Here, we compared genotype to phenotype in 355 patients in the Rare Kidney Stone Consortium PH registry and calculated prevalence using publicly available whole-exome data. PH1 (68.4% of families) was the most severe PH type, whereas PH3 (11.0% of families) showed the slowest decline in renal function but the earliest symptoms. A group of patients with disease progression similar to that of PH3, but for whom no mutation was detected (11.3% of families), suggested further genetic heterogeneity. We confirmed that the AGXT p.G170R mistargeting allele resulted in a milder PH1 phenotype; however, other potential AGXT mistargeting alleles caused more severe (fully penetrant) disease. We identified the first PH3 patient with ESRD; a homozygote for two linked, novel missense mutations. Population analysis suggested that PH is an order of magnitude more common than determined from clinical cohorts (prevalence, approximately 1:58,000; carrier frequency, approximately 1:70). We estimated PH to be approximately three times less prevalent among African Americans than among European Americans because of a limited number of common European origin alleles. PH3 was predicted to be as prevalent as PH1 and twice as common as PH2, indicating that PH3 (and PH2) cases are underdiagnosed and/or incompletely penetrant. These results highlight a role for molecular analyses in PH diagnostics and prognostics and suggest that wider analysis of the idiopathic stone-forming population may be beneficial.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.