ArticleKidney international reports2021
Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.
Article in Kidney international reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- International Alliance of Urolithiasis (IAU) guidelines on the metabolic evaluation and medical management of urolithiasis.Urolithiasis · 2022Pooled it
- 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
- The Role of Altered Mineral Metabolism in Kidney Stone Disease: Is Vitamin D the Key?American journal of kidney diseases : the official journal of the National Kidney Foundation · 2026Article
- Stone-Dominant Renal Phenotype Without Nephrocalcinosis inKidney international reports · 2026Article
- The effects of elevated phosphate on the kidney - damaging the gatekeeper.Pflugers Archiv : European journal of physiology · 2026Review
- Deep biochemical phenotyping reveals prognostic value of rare genetic variants in adult kidney stone disease.The Journal of clinical investigation · 2026Observational
- Genetic and Clinical Characterization of a Large Cohort with Suspected Monogenic Stone Disease.Clinical journal of the American Society of Nephrology : CJASN · 2025Article
- Acquired cystinuria in a kidney transplant recipient.Clinical kidney journal · 2025Article
- A Minor Haplotype Variant Determines the Pathogenicity of the p.Ile279Thr Substitution in the Primary Hyperoxaluria Type 1 Gene, AGXT.Journal of inherited metabolic disease · 2025Article
- Article
- Genetics of kidney stones and the role of genetic testing in prevention: a guide for urologists.Frontiers in medicine · 2025Review
- Role of Genetic Testing in Kidney Stone Disease: A Narrative Review.Current urology reports · 2024Review
- Characteristics and Yield of Modern Approaches for the Diagnosis of Genetic Causes of Kidney Stone Disease.Genes · 2024Review
- Opportunities in Primary and Enteric Hyperoxaluria at the Cross-Roads Between the Clinic and Laboratory.Kidney international reports · 2024Article
- Dent's Disease: A Cause of Monogenic Kidney Stones and Nephrocalcinosis.Journal of personalized medicine · 2024Article
- An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).Kidney international · 2024Article
- Review of childhood genetic nephrolithiasis and nephrocalcinosis.Frontiers in genetics · 2024Review
- Characterization of pre-mRNA Splicing Defects Caused byBiomedicines · 2023Article
- Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients.Pediatric nephrology (Berlin, Germany) · 2023Article
Corrections and comments
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Authors and funding
22 authors at 7 institutions in 4 countries.
Funding
Abstract
introductionBecause of phenotypic overlap between monogenic urinary stone diseases (USD), gene-specific analyses can result in missed diagnoses. We used targeted next generation sequencing (tNGS), including known and candidate monogenic USD genes, to analyze suspected primary hyperoxaluria (PH) or Dent disease (DD) patients genetically unresolved (negative; N) after Sanger analysis of the known genes. Cohorts consisted of 285 PH (PHN) and 59 DD (DDN) families.
methodsVariants were assessed using disease-specific and population databases plus variant assessment tools and categorized using the American College of Medical Genetics (ACMG) guidelines. Prior Sanger analysis identified 47 novel PH or DD gene pathogenic variants.
resultsScreening by tNGS revealed pathogenic variants in 14 known monogenic USD genes, accounting for 45 families (13.1%), 27 biallelic and 18 monoallelic, including 1 family with a copy number variant (CNV). Recurrent genes included the following:
conclusionOverall, in patients suspected of DD or PH, 23.9% and 7.3% of cases, respectively, were caused by pathogenic variants in other genes. This study shows the value of a tNGS screening approach to increase the diagnosis of monogenic USD, which can optimize therapies and facilitate enrollment in clinical trials.
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