Evidence map›Paper›PMID 41278337›Full record

ArticleKidney international reports2025

Diagnostic Yield of Whole-Genome Sequencing in Patients With Kidney Failure of Undetermined Etiology at Age 50 Years or Younger.

Jeff Granhøj, Mads M Aagaard, Katja V Pedersen, Dorte L Lildballe, Bjarne Ørskov, Birgitte G Tougaard, Rasmus H Pausgaard, Klaus Brusgaard, Per Svenningsen, Henrik Birn and 1 more

Abstract read
In one paragraph

Article in Kidney international reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Jeff GranhøjDepartment of Clinical Genetics, Lillebaelt Hospital - University Hospital of Southern Denmark, Vejle, Denmark.
Mads M AagaardDepartment of Clinical Genetics, Lillebaelt Hospital - University Hospital of Southern Denmark, Vejle, Denmark.
Katja V PedersenDepartment of Clinical Genetics, Lillebaelt Hospital - University Hospital of Southern Denmark, Vejle, Denmark.
Dorte L LildballeDepartment of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.
Bjarne ØrskovDepartment of Medicine, Zealand University Hospital, Roskilde, Denmark.
Birgitte G TougaardDepartment of Renal Medicine, Aarhus University Hospital, Aarhus, Denmark.
Rasmus H PausgaardDepartment of Clinical Genetics, Lillebaelt Hospital - University Hospital of Southern Denmark, Vejle, Denmark.
Klaus BrusgaardDepartment of Clinical Genetics, Lillebaelt Hospital - University Hospital of Southern Denmark, Vejle, Denmark.
Per SvenningsenDepartment of Molecular Medicine - Cardiovascular and Renal Research unit, University of Southern Denmark, Odense, Denmark.
Henrik BirnDepartment of Clinical Medicine, Aarhus University, Aarhus, Denmark.
Maria RasmussenDepartment of Clinical Genetics, Lillebaelt Hospital - University Hospital of Southern Denmark, Vejle, Denmark.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: The cause of kidney failure (KF) often remains undetermined despite extensive diagnostic efforts. Given that genetic kidney diseases are underdiagnosed, we conducted a cross-sectional study to investigate the prevalence in patients with KF of undetermined etiology (uKF) using multifaceted genetic screening. Methods: One hundred twenty-four patients with uKF by age ≤ 50 years previously underwent single-nucleotide polymorphism (SNP)-array and Results: The median age at uKF was 37.5 years, with 92% having adult-onset uKF. WGS identified genetic causes in 26 of 114 (23%). Including all initial 124 families, the combined diagnostic yield was 36 of 124 (29%), with 3 diagnoses from SNP-array, 7 from Conclusion: Using WGS, we identified a genetic cause in 23% of patients with uKF at age 50 or younger, resulting in a combined diagnostic rate of 29%. Most pathogenic variants were detectable by WGS.

Indexed as

genetic screeningkidney failurewhole-genome sequencing

Identifiers

PMID41278337
PMCPMC12640074

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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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 Socratic graph.