Evidence map›Paper›PMID 38544324›Full record

ArticleNephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association2024

Prevalence and characteristics of genetic disease in adult kidney stone formers.

Manuel A Anderegg, Eric G Olinger, Matteo Bargagli, Rob Geraghty, Lea Taylor, Alexander Nater, Rémy Bruggmann, John A Sayer, Bruno Vogt, André Schaller and 1 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed
16.3field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

28 citing papers in PubMed, 39 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Review
  5. Observational
  6. Article
  7. Patients' priorities in kidney stone disease.Annals of the Royal College of Surgeons of England · 2026
    Article
  8. Article
  9. Article
  10. Review
  11. Review
  12. Article
  13. From Heterogeneity to Precision in Urinary Stone Disease: Who to Test, When, and with What.Clinical journal of the American Society of Nephrology : CJASN · 2025
    Article
  14. Review
  15. Genetic and Clinical Characterization of a Large Cohort with Suspected Monogenic Stone Disease.Clinical journal of the American Society of Nephrology : CJASN · 2025
    Article
  16. Article
  17. Review
  18. Article
  19. Article
  20. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors at 3 institutions in 3 countries.

Manuel A AndereggDepartment of Nephrology and Hypertension, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Eric G OlingerDepartment of Nephrology and Hypertension, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Matteo BargagliDepartment of Nephrology and Hypertension, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Rob GeraghtyTranslational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
Lea TaylorInterfaculty Bioinformatics Unit, University of Bern and Swiss Institute of Bioinformatics, Bern, Switzerland.
Alexander NaterInterfaculty Bioinformatics Unit, University of Bern and Swiss Institute of Bioinformatics, Bern, Switzerland.
Rémy BruggmannInterfaculty Bioinformatics Unit, University of Bern and Swiss Institute of Bioinformatics, Bern, Switzerland.
John A SayerTranslational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
Bruno VogtDepartment of Nephrology and Hypertension, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.ORCID 0000-0002-1548-6387
André SchallerDepartment of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Daniel G FusterDepartment of Nephrology and Hypertension, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.ORCID 0000-0001-7220-1803
University of Bern · CHNewcastle University · GBNewcastle upon Tyne Hospitals NHS Foundation Trust · GB

Funding

LifeArc and the Medical Research Council MR/Y007808/1Northern Counties Kidney Research Fund Paed_RP_001_20180925Swiss National Science Foundation P2ZHP3_195181
6 · The paper itself

Abstract

backgroundMolecular mechanisms of kidney stone formation remain unknown in most patients. Previous studies have shown a high heritability of nephrolithiasis, but data on the prevalence and characteristics of genetic disease in unselected adults with nephrolithiasis are lacking. This study was conducted to fill this important knowledge gap.

methodsWe performed whole exome sequencing in 787 participants in the Bern Kidney Stone Registry, an unselected cohort of adults with one or more past kidney stone episodes [kidney stone formers (KSFs)] and 114 non-kidney stone formers (NKSFs). An exome-based panel of 34 established nephrolithiasis genes was analysed and variants assessed according to American College of Medical Genetics and Genomics criteria. Pathogenic (P) or likely pathogenic (LP) variants were considered diagnostic.

resultsThe mean age of KSFs was 47 ± 15 years and 18% were first-time KSFs. A Mendelian kidney stone disease was present in 2.9% (23/787) of KSFs. The most common genetic diagnoses were cystinuria (SLC3A1, SLC7A9; n = 13), vitamin D-24 hydroxylase deficiency (CYP24A1; n = 5) and primary hyperoxaluria (AGXT, GRHPR, HOGA1; n = 3). Of the KSFs, 8.1% (64/787) were monoallelic for LP/P variants predisposing to nephrolithiasis, most frequently in SLC34A1/A3 or SLC9A3R1 (n = 37), CLDN16 (n = 8) and CYP24A1 (n = 8). KSFs with Mendelian disease had a lower age at the first stone event (30 ± 14 versus 36 ± 14 years; P = .003), were more likely to have cystine stones (23.4% versus 1.4%) and less likely to have calcium oxalate monohydrates stones (31.9% versus 52.5%) compared with KSFs without a genetic diagnosis. The phenotype of KSFs with variants predisposing to nephrolithiasis was subtle and showed significant overlap with KSFs without diagnostic variants. In NKSFs, no Mendelian disease was detected and LP/P variants were significantly less prevalent compared with KSFs (1.8% versus 8.1%).

conclusionMendelian disease is uncommon in unselected adult KSFs, yet variants predisposing to nephrolithiasis are significantly enriched in adult KSFs.

Indexed as

Kidney CalculiAdultExome SequencingFemaleHumansMaleMiddle AgedNephrolithiasisPrevalenceRegistrieskidney stonesmendelianmonogenicnephrolithiasiswhole exome sequencing

Identifiers

PMID38544324
PMCPMC11483609
OpenAlexW4393276532

What OpenQuestion holds

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LicenceCC BY-NC
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Registered trials

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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.