Evidence map›Paper›PMID 40115110›Full record

ReviewClinical kidney journal2025

When should the nephrologist think about genetics in patients with glomerular diseases?

Roser Torra, Xoana Barros, Montserrat Díaz-Encarnación, Leonor Fayos, Mónica Furlano, Melissa Pilco, Marc Pybus, Amir Shabaka, Elizabeth Viera, Elisabet Ars

Abstract readReview
In one paragraph

Review in Clinical kidney journal, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. ERA's ABCDE framework for kidney disease prevention: turning the WHO kidney health resolution into action.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2026
    Article
  3. Transition of patients with hereditary nephropathies from paediatric to adult care.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2026
    Article
  4. Review
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

10 authors.

Roser TorraNephrology Department, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), Departament de Medicina, Universitat Autònoma de Barcelona, Barcelona, Spain. RICORS2040.ORCID https://orcid.org/0000-0001-8714-2332
Xoana BarrosNephrology Department, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), Departament de Medicina, Universitat Autònoma de Barcelona, Barcelona, Spain. RICORS2040.
Montserrat Díaz-EncarnaciónNephrology Department, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), Departament de Medicina, Universitat Autònoma de Barcelona, Barcelona, Spain. RICORS2040.ORCID https://orcid.org/0000-0001-5172-3370
Leonor FayosNephrology Department, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), Departament de Medicina, Universitat Autònoma de Barcelona, Barcelona, Spain. RICORS2040.
Mónica FurlanoNephrology Department, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), Departament de Medicina, Universitat Autònoma de Barcelona, Barcelona, Spain. RICORS2040.ORCID https://orcid.org/0000-0003-1025-3901
Melissa PilcoNephrology Department, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), Departament de Medicina, Universitat Autònoma de Barcelona, Barcelona, Spain. RICORS2040.ORCID https://orcid.org/0000-0002-1311-0896
Marc PybusMolecular Biology Laboratory, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), Universitat Autònoma de Barcelona, Barcelona, Spain. RICORS2040.ORCID https://orcid.org/0000-0002-6195-5738
Amir ShabakaNephrology Department, Hospital Universitario la Paz, Madrid, Spain. RICORS2040.ORCID https://orcid.org/0000-0001-7039-4701
Elizabeth VieraNephrology Department, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), Departament de Medicina, Universitat Autònoma de Barcelona, Barcelona, Spain. RICORS2040.
Elisabet ArsMolecular Biology Laboratory, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), Universitat Autònoma de Barcelona, Barcelona, Spain. RICORS2040.ORCID https://orcid.org/0000-0002-4118-4358

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This review discusses the significance of genetics in diagnosing glomerular diseases. Advances in genetic testing, particularly next-generation sequencing, have improved the accessibility and accuracy of diagnosing monogenic diseases, allowing for targeted gene panels and whole-exome/genome sequencing to identify genetic variants associated with glomerular diseases. Key indicators for considering a genetic cause include the age of onset, extrarenal features, family history, and inconclusive kidney biopsy results. Early-onset diseases, for instance, have a higher likelihood of being genetically caused, while extrarenal manifestations can also suggest an underlying genetic condition. A thorough family history can reveal patterns of inheritance that point to monogenic causes, although complexities like incomplete penetrance, skewed X inactivation and mosaicism can complicate the assessment. Also, autosomal recessive conditions imply asymptomatic parents, making genetic suspicion less likely, while

Indexed as

FSGSgeneticgenetic testingglomerularproteinuric

Identifiers

PMID40115110
PMCPMC11923545

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.