Evidence map›Paper›PMID 34765393›Full record

ArticleJIMD reports2021

Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease.

Eline C B Eskes, Martijn J C van der Lienden, Joris J T H Roelofs, Liffert Vogt, Johannes M F G Aerts, Jan Aten, Carla E M Hollak

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PubMed Full text at PMC Publisher
In one paragraph

Article in JIMD reports, 2021. 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
0.2field-weighted citation impact, top 46% of its field
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, 2 citations in OpenAlex.

  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

7 authors at 3 institutions in 1 country.

Eline C B EskesDepartment of Endocrinology and Metabolism Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands.ORCID https://orcid.org/0000-0003-3662-0212
Martijn J C van der LiendenDepartment of Endocrinology and Metabolism Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands.
Joris J T H RoelofsDepartment of Pathology Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands.
Liffert VogtAmsterdam UMC, Amsterdam Cardiovascular Sciences Department of Internal Medicine, section Nephrology, University of Amsterdam Amsterdam The Netherlands.
Johannes M F G AertsLeiden Institute of Chemistry, Department of Medical Biochemistry University of Leiden Leiden The Netherlands.
Jan AtenDepartment of Pathology Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands.
Carla E M HollakDepartment of Endocrinology and Metabolism Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands.
Amsterdam University Medical Centers · NLAmsterdam Neuroscience · NLLeiden University · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease (LSD) in which sphingomyelin accumulates due to deficient acid sphingomyelinase. In the chronic visceral subtype, organ manifestations are generally limited to the spleen, liver, and lungs. We report a male patient with the chronic visceral subtype who developed proteinuria and renal insufficiency at the age of 49. In renal tissue, foam cells were observed in the glomeruli as well as sphingomyelin accumulation within podocytes, mesangial cells, endothelial cells, and tubular epithelial cells. Although macrophages are the primary storage cells in both ASMD and Gaucher disease, comparison to the histopathological findings in Gaucher and Fabry disease revealed a diffuse storage pattern in multiple renal cell types, closer resembling the pattern found in Fabry disease.

Indexed as

acid sphingomyelinase deficiencyFabry diseaseGaucher diseasehistopathologyNiemann‐Pick diseaserenal manifestations

Identifiers

PMID34765393
PMCPMC8574181
OpenAlexW3185669213

What OpenQuestion holds

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LicenceCC BY
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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 OpenQuestion graph.