Genetic insights into congenital and infantile nephrotic syndrome: predicting severity and informing care.

Ewelina D Hejenkowska, Paul Kruszka, Agnieszka Swiatecka-Urban

Abstract read

In one paragraph

Article in Pediatric nephrology (Berlin, Germany), 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.

Ewelina D HejenkowskaDepartment of Pediatrics, Division of Nephrology, University of Virginia School of Medicine, Charlottesville, VA, 22903, USA.

Paul KruszkaDepartment of Pediatrics, Division of Genetics, University of Virginia School of Medicine, Charlottesville, VA, 22903, USA.

Agnieszka Swiatecka-UrbanDepartment of Pediatrics, Division of Nephrology, University of Virginia School of Medicine, Charlottesville, VA, 22903, USA. as6xx@uvahealth.org.ORCID http://orcid.org/0000-0002-6575-0334

Funding

Single-Cell Epigenomics, Transcriptomics, and Bioinformatics CoreP50DK096373 · NIDDK · UNIVERSITY OF VIRGINIA · PI ROBERTO Ariel GOMEZ · 2012 to 2026

$13.8M

Cystic Fibrosis Foundation SWIATE24A0-MPINIDDK NIH HHS P50 DK096373NIDDK NIH HHS P50 DK096373-11

6 · The paper itself

Abstract

Nephrotic syndrome (NS) is the most common chronic glomerular disorder in pediatric populations, yet its manifestation during the neonatal or infantile period often portends a severe, treatment-resistant monogenic form. While recent studies reveal marked heterogeneity in the clinical course and severity of congenital and infantile NS, critical gaps remain in understanding its underlying mechanisms. This review synthesizes current evidence on the genetic landscape of the early-onset NS, highlighting how advances in next-generation sequencing and molecular diagnostics have refined genotype-phenotype correlations. We discuss how these insights are reshaping disease classification, enabling early prognostic stratification, and informing personalized management strategies. Emphasis is placed on the transformative role of genetic testing in guiding clinical care and uncovering novel therapeutic avenues for this complex pediatric kidney disorder.

Indexed as

Congenital nephrotic syndromeGenetic testingInfantile nephrotic syndromeNext-generation sequencing

Identifiers

PMID42360464

DOI10.1007/s00467-026-07407-2

PMCPMC13410343

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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.