Evidence map›Paper›PMID 41562995›Full record

ArticlePediatric reports2025

When Genes Reveal the Truth: Alport Syndrome Mimicking Steroid-Resistant Nephrotic Syndrome.

John Dotis, Antonia Kondou, George Liapis, Athina Ververi, Konstantinos Kollios, Nikoleta Printza

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

Article in Pediatric 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. 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

6 authors.

John DotisThird Department of Pediatrics, Aristotle University of Thessaloniki, Hippokration Hospital, 546 42 Thessaloniki, Greece.ORCID 0000-0001-5217-1766
Antonia KondouFirst Department of Pediatrics, Aristotle University of Thessaloniki, Hippokration Hospital, 546 42 Thessaloniki, Greece.ORCID 0000-0002-1709-4272
George LiapisFirst Pathological Anatomy Department, Laikon General Hospital, 115 27 Athens, Greece.
Athina VerveriCentre of Genetics for Rare Diseases, Papageorgiou Hospital, 564 03 Thessaloniki, Greece.
Konstantinos KolliosThird Department of Pediatrics, Aristotle University of Thessaloniki, Hippokration Hospital, 546 42 Thessaloniki, Greece.
Nikoleta PrintzaFirst Department of Pediatrics, Aristotle University of Thessaloniki, Hippokration Hospital, 546 42 Thessaloniki, Greece.ORCID 0000-0003-1618-9285

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Τargeted genetic sequencing in a 6-year-old with steroid-resistant nephrotic syndrome and biopsy findings of focal segmental glomerulosclerosis (FSGS) revealed a novel COL4A3 pathogenic variant (p.Arg341His). Combined with electron microscopy findings of glomerular basement membrane abnormality, this led to a diagnosis of type IV collagen-related nephropathy. This case underscores the benefit of early genetic testing in presumed FSGS for prognosis and avoiding unnecessary immunosuppression in pediatric nephrotic syndrome.

Indexed as

collagen type IV alpha-3 genediagnosisfocal segmental glomerulosclerosisnephropathysteroid-resistant nephrotic syndrome

Identifiers

PMID41562995
PMCPMC12821478

What OpenQuestion holds

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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.