ArticleKidney international2018
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.
Article in Kidney international, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 115 papers, 3 of them syntheses that pooled it.
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Who cites it
115 citing papers in PubMed, 3 syntheses or guidelines pooled it, 195 citations in OpenAlex.
- Integrative genome-wide analyses identify novel loci associated with kidney stones and provide insights into its genetic architecture.Nature communications · 2023Pooled it
- Pooled it
- Association of vitamin D receptor gene polymorphisms and risk of urolithiasis: results of a genetic epidemiology study and comprehensive meta-analysis.Urolithiasis · 2020Pooled it
- Genetic kidney diseases: Decoding molecular taxonomies to drive precision nephrology and therapeutic innovation.Genes & diseases · 2027Review
- Role and relevance of genetic testing in patients with kidney stones: a review from EAU Section of Endourology.Current opinion in urology · 2026Review
- Deep biochemical phenotyping reveals prognostic value of rare genetic variants in adult kidney stone disease.The Journal of clinical investigation · 2026Observational
- Differential clinical characteristics of Chinese children with primary hyperoxaluria type 3.Pediatric nephrology (Berlin, Germany) · 2026Article
- Genetic causes of nephrolithiasis and nephrocalcinosis in a pediatric population in Saudi Arabia.Pediatric nephrology (Berlin, Germany) · 2026Article
- Article
- Personalised prevention and management of kidney stones: a narrative review on the importance of integrating environmental, social and genetic factors.Public health reviews · 2026Review
- Case Report: Infantile hypercalcemia type 1 due to CYP24A1 pathogenic variants-three adult patients with nephrolithiasis and nephrocalcinosis successfully treated with fluconazole.Frontiers in medicine · 2026Article
- Genetic and Clinical Characterization of a Large Cohort with Suspected Monogenic Stone Disease.Clinical journal of the American Society of Nephrology : CJASN · 2025Article
- Diagnostic utility of whole exome sequencing in pediatric and adult patients with suspected monogenic chronic kidney disease.Molecular biology reports · 2025Article
- Kidney stone disease: risk factors, pathophysiology and management.Nature reviews. Nephrology · 2025Review
- Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.Kidney international reports · 2025Article
- Whole Exome Sequencing in Chinese Pediatric Patients With Nephrolithiasis.Kidney international reports · 2025Article
- Genes, kidneys, and the future: transforming chronic kidney disease management through genomic insights.Childhood kidney diseases · 2025Review
- Article
- Extrarenal manifestations in inherited kidney diseases.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2025Review
- Implementation of a Kidney Genetic Service Into the Diagnostic Pathway for Patients With Chronic Kidney Disease in Canada.Kidney international reports · 2025Article
55 more citing papers are in PubMed but not listed here.
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38 authors at 15 institutions in 10 countries.
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Abstract
The incidence of nephrolithiasis continues to rise. Previously, we showed that a monogenic cause could be detected in 11.4% of individuals with adult-onset nephrolithiasis or nephrocalcinosis and in 16.7-20.8% of individuals with onset before 18 years of age, using gene panel sequencing of 30 genes known to cause nephrolithiasis/nephrocalcinosis. To overcome the limitations of panel sequencing, we utilized whole exome sequencing in 51 families, who presented before age 25 years with at least one renal stone or with a renal ultrasound finding of nephrocalcinosis to identify the underlying molecular genetic cause of disease. In 15 of 51 families, we detected a monogenic causative mutation by whole exome sequencing. A mutation in seven recessive genes (AGXT, ATP6V1B1, CLDN16, CLDN19, GRHPR, SLC3A1, SLC12A1), in one dominant gene (SLC9A3R1), and in one gene (SLC34A1) with both recessive and dominant inheritance was detected. Seven of the 19 different mutations were not previously described as disease-causing. In one family, a causative mutation in one of 117 genes that may represent phenocopies of nephrolithiasis-causing genes was detected. In nine of 15 families, the genetic diagnosis may have specific implications for stone management and prevention. Several factors that correlated with the higher detection rate in our cohort were younger age at onset of nephrolithiasis/nephrocalcinosis, presence of multiple affected members in a family, and presence of consanguinity. Thus, we established whole exome sequencing as an efficient approach toward a molecular genetic diagnosis in individuals with nephrolithiasis/nephrocalcinosis who manifest before age 25 years.
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