Evidence map›Paper›PMID 40503181›Full record

ArticleGlomerular diseases

Familial Idiopathic Glomerular Disease due to a Unique Renal-Predominant Phenotype of MYH9-Related Disease: A Case Report.

Natasha S Freeman, Kelsie Bogyo, Andrew Beenken, Jordan G Nestor, Simone Sanna-Cherchi, Pietro A Canetta

Abstract read
In one paragraph

Article in Glomerular diseases. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Review
  2. Kidney international reports · 2026
    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.

Natasha S FreemanDivision of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA.
Kelsie BogyoDivision of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA.
Andrew BeenkenDivision of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA.
Jordan G NestorDivision of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA.
Simone Sanna-CherchiDivision of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA.
Pietro A CanettaDivision of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA.

Funding

Structural regulation of megalin recycling in the proximal tubuleK08DK132511 · NIDDK · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ANDREW S BEENKEN · 2023 to 2026
$666k
Digital Tools for Precision NephrologyK08DK138280 · NIDDK · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Jordan Gabriela Nestor · 2024 to 2026
$500k
NIDDK NIH HHS K08 DK132511NIDDK NIH HHS K08 DK138280
6 · The paper itself

Abstract

Introduction: MYH9-related disease (MYH9-RD) is a rare genetic cause of proteinuric kidney disease. It typically manifests as a syndromic condition, presenting with macrocytic thrombocytopenia, sensorineural hearing loss (SNHL), chronic glomerulopathy, elevated liver enzymes, and early-onset bilateral cataracts. In accordance with CARE guidelines, we present a case report of a father and daughter with renal-predominant MYH9-RD due to a recently described missense variant affecting the head domain of non-muscle myosin heavy chain IIA. Case Presentations: Patient 1 was an 18-year-old woman with childhood proteinuria who presented with severely advanced kidney failure. Dialysis was initiated as a bridge to a living unrelated renal transplant (LURT). Family history was notable for proteinuric kidney disease in her father (patient 2). Eight years later, genetic testing identified a likely pathogenic missense variant in the head domain of the Conclusion: The finding of this

Indexed as

Case reportGeneticsGlomerular diseasesMYH9-related diseaseProteinuria

Identifiers

PMID40503181
PMCPMC12158415

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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.