Evidence map›Paper›PMID 40426774›Full record

ArticleChildren (Basel, Switzerland)2025

WT1-Related Nephropathy in a Phenotypically Female Child: A Case of Clinical and Genetic Discordance.

Mariana Costin, Eliza Elena Cinteză, Anca Croitoru, Ionela-Loredana Popa, Alexandra Stanciu, Irina Popescu, Nicoleta Petre, Bettyna Olivotto, Andrei Căpitănescu, Sofia Resceanu and 2 more

Abstract readCase Reports
In one paragraph

Article in Children (Basel, Switzerland), 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

12 authors.

Mariana Costin"Carol Davila" University of Medicine and Pharmacy, 050474 Bucharest, Romania.
Eliza Elena Cinteză"Carol Davila" University of Medicine and Pharmacy, 050474 Bucharest, Romania.
Anca Croitoru"Carol Davila" University of Medicine and Pharmacy, 050474 Bucharest, Romania.ORCID 0009-0004-4223-5024
Ionela-Loredana Popa"Carol Davila" University of Medicine and Pharmacy, 050474 Bucharest, Romania.
Alexandra StanciuDepartment of Pediatric Nephrology, "M.S. Curie" Emergency Clinical Hospital for Children, 077120 Bucharest, Romania.
Irina PopescuDepartment of Pediatric Radiology, "M.S. Curie" Emergency Clinical Hospital for Children, 077120 Bucharest, Romania.
Nicoleta PetreClinical Hospital of Nephrology "Dr. Carol Davila", 010731 Bucharest, Romania.
Bettyna OlivottoDepartment of Dialysis, "M.S. Curie" Emergency Clinical Hospital for Children, 077120 Bucharest, Romania.
Andrei CăpitănescuDepartment of Dialysis, "M.S. Curie" Emergency Clinical Hospital for Children, 077120 Bucharest, Romania.
Sofia ResceanuDepartment of Pediatric Nephrology, "M.S. Curie" Emergency Clinical Hospital for Children, 077120 Bucharest, Romania.
Elena CotfasaDepartment of Pediatric Nephrology, "M.S. Curie" Emergency Clinical Hospital for Children, 077120 Bucharest, Romania.
Cristina BologaDepartment of Pediatric Nephrology, "M.S. Curie" Emergency Clinical Hospital for Children, 077120 Bucharest, Romania.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

WT1-related disorders comprise a spectrum of conditions resulting from mutations or deletions of the WT1 gene. Alteration in this gene have been associated with many syndromes, including WAGR syndrome, Denys-Drash syndrome (DDS), Frasier syndrome (FS) and Meacham syndrome. We present the case of an 8-year-old phenotypically female child with symptoms of end-stage kidney disease (ESKD), hypertension and anasarca, requiring renal replacement therapy. This case is distinctive due to its unusual onset, the presence of thrombotic microangiopathy (TMA), and the detection of a heterozygous missense mutation in the

Indexed as

Denys–Drash syndrome (DDS)end-stage kidney disease (ESKD)focal segmental glomerulosclerosis (FSGS)Frasier syndrome (FS)thrombotic microangiopathy (TMA)Wilms Tumor 1 (WT1)

Identifiers

PMID40426774
PMCPMC12110725

What Socratic 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 Socratic graph.