Evidence map›Paper›PMID 41255498›Full record

ArticleCureus2025

Molecular Diagnosis and Identification of a Novel Pathogenic Variant in Autosomal Dominant Polycystic Kidney Disease (ADPKD): A Case in Full Bloom.

Dimitrios Pallas, Achilleas Betsikos, Vasiliki Zafeirouli, Virginia Geladari, Nikolaos Sabanis

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Cureus, 2025. 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

5 authors.

Dimitrios PallasDepartment of Hepatology, Avicenne Hospital, Paris, FRA.
Achilleas BetsikosDepartment of Internal Medicine, General Hospital of Trikala, Trikala, GRC.
Vasiliki ZafeirouliDepartment of Nephrology, General Hospital of Trikala, Trikala, GRC.
Virginia GeladariDepartment of Internal Medicine, General Hospital of Trikala, Trikala, GRC.
Nikolaos SabanisDepartment of Nephrology, General Hospital of Trikala, Trikala, GRC.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report a case of a 58-year-old woman presenting with worsening arterial hypertension and a history of symptomatic stone disease. Detailed family pedigree analysis, appropriate imaging studies, and genomic sequencing identified a novel pathogenic variant in the PKD2 gene, c.1262C>A (p. Ala421Glu), confirming the diagnosis of autosomal dominant polycystic kidney disease (ADPKD). To the best of our knowledge, this case study represents the first documented report of the causative role of c.1262C>A (p. Ala421Glu) variant in the ADPKD phenotype.

Indexed as

autosomal dominant polycystic kidneyautosomal dominant polycystic kidney and liver diseaseheterozygous pathogenic variantintracranial aneurysmpolycystin-2

Identifiers

PMID41255498
PMCPMC12620753

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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.