ArticlePediatric nephrology (Berlin, Germany)2023
Genetic testing in children with nephrolithiasis and nephrocalcinosis.
Article in Pediatric nephrology (Berlin, Germany), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 25 citations in OpenAlex.
- Molecular and Genetic Determinants of Nephrocalcinosis: Mechanisms, Genotype-Phenotype Correlations, and Precision Medicine.International journal of molecular sciences · 2026Review
- The effects of elevated phosphate on the kidney - damaging the gatekeeper.Pflugers Archiv : European journal of physiology · 2026Review
- Differential clinical characteristics of Chinese children with primary hyperoxaluria type 3.Pediatric nephrology (Berlin, Germany) · 2026Article
- 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
- From Heterogeneity to Precision in Urinary Stone Disease: Who to Test, When, and with What.Clinical journal of the American Society of Nephrology : CJASN · 2025Article
- Nephrocalcinosis in a Child with Sotos Syndrome: A Case Report of Contiguous Gene Syndrome EncompassingJournal of clinical medicine · 2025Article
- Variants of unknown significance are common in brushite stone formers undergoing genetic testing for nephrolithiasis.Urolithiasis · 2025Article
- Whole Exome Sequencing in Chinese Pediatric Patients With Nephrolithiasis.Kidney international reports · 2025Article
- Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported.Clinical kidney journal · 2025Article
- Clinical characteristics of nephrocalcinosis in a tertiary children's hospital.Frontiers in pediatrics · 2025Article
- 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
- 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
- Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients.Pediatric nephrology (Berlin, Germany) · 2023Article
- The Role of Genetic Testing in Pediatric Renal Diseases: Diagnostic, Prognostic, and Social Implications.Cureus · 2023Review
- Nephrocalcinosis: unveiling renal tubulopathies in the genomic era.Jornal brasileiro de nefrologiaArticle
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Authors and funding
13 authors at 9 institutions in 2 countries.
Funding
Abstract
backgroundDiagnosing genetic kidney disease has become more accessible with low-cost, rapid genetic testing. The study objectives were to determine genetic testing diagnostic yield and examine predictors of genetic diagnosis in children with nephrolithiasis/nephrocalcinosis (NL/NC).
methodsThis retrospective multicenter cross-sectional study was conducted on children ≤ 21 years old with NL/NC from pediatric nephrology/urology centers that underwent the Invitae Nephrolithiasis Panel 1/1/2019-9/30/2021. The diagnostic yield of the genetic panel was calculated. Bivariate and multiple logistic regression were performed to assess for predictors of positive genetic testing.
resultsOne hundred and thirteen children (83 NL, 30 NC) from 7 centers were included. Genetic testing was positive in 32% overall (29% NL, 40% NC) with definite diagnoses (had pathogenic variants alone) made in 11.5%, probable diagnoses (carried a combination of pathogenic variants and variants of uncertain significance (VUS) in the same gene) made in 5.4%, and possible diagnoses (had VUS alone) made in 15.0%. Variants were found in 28 genes (most commonly HOGA1 in NL, SLC34A3 in NC) and 20 different conditions were identified. Compared to NL, those with NC were younger and had a higher proportion with developmental delay, hypercalcemia, low serum bicarbonate, hypophosphatemia, and chronic kidney disease. In multivariate analysis, low serum bicarbonate was associated with increased odds of genetic diagnosis (β 2.2, OR 8.7, 95% CI 1.4-54.7, p = 0.02).
conclusionsGenetic testing was high-yield with definite, probable, or possible explanatory variants found in up to one-third of children with NL/NC and shows promise to improve clinical practice. A higher resolution version of the Graphical abstract is available as Supplementary information.
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