Evidence map›Paper›PMID 39096414›Full record

ArticleCEN case reports2025

MYH9-related disease with a normal platelet count.

Ryo Nakatani, Kenichiro Miura, Yoko Shirai, Sekiko Taneda, Tomoko Horinouchi, Kandai Nozu, Kazuho Honda, Yutaka Yamaguchi, Shinji Kunishima, Motoshi Hattori

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

Article in CEN case reports, 2025. 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. Article
  2. 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

10 authors.

Ryo NakataniDepartment of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo, Japan.ORCID 0000-0003-3438-0251
Kenichiro MiuraDepartment of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo, Japan.ORCID 0000-0002-9483-8482
Yoko ShiraiDepartment of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo, Japan.ORCID 0000-0003-3734-4766
Sekiko TanedaDepartment of Surgical Pathology, Tokyo Women's Medical University, Tokyo, Japan.
Tomoko HorinouchiDepartment of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Kandai NozuDepartment of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Kazuho HondaDepartment of Anatomy, Showa University School of Medicine, Tokyo, Japan.
Yutaka YamaguchiYamaguchi's Pathology Laboratory, Chiba, Japan.
Shinji KunishimaDepartment of Medical Technology, School of Health Sciences, Gifu University of Medical Science, Gifu, Japan.
Motoshi HattoriDepartment of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo, Japan. hattori.motoshi@twmu.ac.jp.ORCID 0000-0002-4309-8672

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

MYH9-related disease (MYH9-RD) is characterized by congenital macrothrombocytopenia, progressive kidney failure, and sensorineural hearing loss. We describe a patient with MYH9-RD and a normal platelet count. A 13-year-old boy with a normal platelet count presented with proteinuria and hematuria and underwent a kidney biopsy. Light microscopy showed mild mesangial matrix expansion. Electron microscopy showed thinning of the glomerular basement membrane and splitting of the lamina densa. A tentative diagnosis of Alport syndrome was made. Unexpectedly, genetic analysis revealed a de novo MYH9 gene variant (p.Gln1068_Leu1074dup). A peripheral blood smear examination showed giant platelets and leukocyte inclusion bodies, confirming a diagnosis of MYH9-RD. In summary, we described a patient with MYH9-RD without thrombocytopenia who showed glomerular basement membrane abnormalities similar to Alport syndrome. Peripheral blood smear examinations may be helpful for an appropriate diagnosis of MYH9-RD, even in patients with proteinuria and a normal platelet count.

Indexed as

Genetic Diseases, InbornHearing Loss, SensorineuralMolecular Motor ProteinsMyosin Heavy ChainsThrombocytopeniaAdolescentBiopsyGlomerular Basement MembraneHematuriaHumansKidneyMaleNephritis, HereditaryPlatelet CountProteinuriaMolecular Motor ProteinsMYH9 protein, humanMyosin Heavy ChainsGlomerular basement membraneMYH9-Related diseasePeripheral blood smear examinationThrombocytopenia

Identifiers

PMID39096414
PMCPMC11958883

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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.