Evidence mapPaperPMID 41848274Full record

ReviewNephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association2026

Genetic kidney disease in adults-the pathologists' perspective.

Anna L Paterson, Melanie M Y Chan, Candice Roufosse

Abstract readReview
In one paragraph

Review in Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

3 authors.

Anna L PatersonDepartment of Histopathology, Cambridge University Hospitals, Cambridge, UK.ORCID 0000-0002-1494-0875
Melanie M Y ChanMedical Research Council Laboratory of Medical Sciences, Imperial College London, London, UK.
Candice RoufosseDepartment of Histopathology, Imperial College Healthcare Trust, London, UK.

Funding

Department of HealthMedical Research CouncilNational Institute for Health Research
6 · The paper itself

Abstract

Monogenic diseases account for 10%-20% of chronic kidney disease (CKD) in adults. Their importance is increasingly appreciated in general nephrology, facilitated by more widespread access to genomic testing and expanding gene panels. The 2024 KDIGO clinical practice guideline for evaluation and management of CKD emphasizes the importance of considering genetic testing, particularly in the context of unexplained CKD (CKDx) when histological evaluation does not identify a precise aetiology. Identifying a genetic cause provides a definitive diagnosis and shapes patient management including access to disease-specific therapies, screening for extra-renal manifestations, early initiation of renoprotective measures, avoiding ineffective and potentially harmful treatments, a better understanding of the likely disease course including risk of recurrence following transplantation, and reproductive counselling. Despite this, genetic kidney disease may be overlooked due to lack of physician or pathologist familiarity, lack of clear family history, genotype-phenotype heterogeneity, and/or atypical presentations. The pathologist has an important role in identifying potential cases of genetic kidney disease as part of routine kidney biopsy assessment. Histology can either strengthen the case for a suspected genetic disease, or-not infrequently-be the first evidence of a potential underlying genetic cause. The pathologist participates in the clinicopathological correlation (CPC) meeting discussing evidence to identify patients in whom genetic testing would be appropriate. This review provides pathologists and nephrologists with an overview of the different histological patterns associated with genetic kidney disease, and outlines a practical framework for reporting kidney biopsies, receiving the reports, and/or participating in CPC discussions.

Indexed as

Genetic TestingKidney DiseasesPathologistsRenal Insufficiency, ChronicAdultHumansgeneticshistopathologykidney biopsymonogenic

Identifiers

PMID41848274
PMCPMC13423820

What Socratic holds

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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.