Evidence map›Paper›PMID 38780768›Full record

ArticlePediatric nephrology (Berlin, Germany)2024

An unusual case of nephrotic syndrome.

Dermot Michael Wildes, Aisling Fitzsimons, Brendan Doyle, Andrew Green, Clodagh Sweeney, Atif Awan

Abstract readCase Reports
In one paragraph

Article in Pediatric nephrology (Berlin, Germany), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
–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

6 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Type IV-Collagen associated nephropathy-a form of nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2025
    Article
  6. Article
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.

Dermot Michael WildesRCSI University of Medicine and Health Sciences, 123 St. Stephen's Green, Dublin 2, Ireland. Dermotwildes@rcsi.com.ORCID 0000-0001-6281-5713
Aisling FitzsimonsDepartment of Paediatric Nephrology and Transplantation, Children's Health Ireland, Dublin, Ireland.
Brendan DoyleRCSI University of Medicine and Health Sciences, 123 St. Stephen's Green, Dublin 2, Ireland.
Andrew GreenDepartment of Clinical Genetics, Children's Health Ireland, Dublin, Ireland.
Clodagh SweeneyDepartment of Paediatric Nephrology and Transplantation, Children's Health Ireland, Dublin, Ireland.
Atif AwanRCSI University of Medicine and Health Sciences, 123 St. Stephen's Green, Dublin 2, Ireland.

Funding

IReL Consortium
6 · The paper itself

Abstract

backgroundAlport syndrome is a genetically heterogenous disorder resulting from variants in genes coding for alpha-3/4/5 chains of Collagen IV, which results in defective basement membranes in the kidney, cochlea and eye. The syndrome has different inheritance patterns and historically, was thought of as a disease affecting solely males. CASE: A 15-year-old female presented with pedal oedema, hypertension and proteinuria. She underwent a kidney biopsy which showed findings in keeping with focal segmental glomerulosclerosis. Her condition was refractory to steroids. Steroid-resistant nephrotic syndrome genetics were sent, revealing a rare pathogenic variant in the COL4A5 gene.

conclusionHeterozygous females with X-linked Alport syndrome can develop chronic kidney disease and hearing loss. Clinicians should be mindful when reviewing kidney histology to include Alport syndrome as a differential for female patients. COL4A3-5 genes should be included in all steroid-resistant nephrotic syndrome genetic panels.

Indexed as

Collagen Type IVNephritis, HereditaryNephrotic SyndromeAdolescentBiopsyFemaleGlomerulosclerosis, Focal SegmentalHumansKidneyMutationCOL4A5 protein, humanCollagen Type IVAlport syndromeAlport syndrome in womenNephrotic syndromeX-linked Alport syndrome

Identifiers

PMID38780768
PMCPMC11413071

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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.