Evidence map›Paper›PMID 28432469›Full record

ArticlePediatric nephrology (Berlin, Germany)2017

Renal findings in patients with Mulibrey nanism.

Johanna Sivunen, Susann Karlberg, Jouko Lohi, Niklas Karlberg, Marita Lipsanen-Nyman, Hannu Jalanko

Open access · greenAbstract read
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In one paragraph

Article in Pediatric nephrology (Berlin, Germany), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.5field-weighted citation impact, top 35% 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

7 citing papers in PubMed, 12 citations in OpenAlex.

  1. Mulibrey Nanism: Clinical Spectrum and Molecular Pathogenesis.International journal of molecular sciences · 2026
    Review
  2. Update on Surveillance for Wilms Tumor and Hepatoblastoma in Beckwith-Wiedemann Syndrome and Other Predisposition Syndromes.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024
    Review
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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 at 2 institutions in 1 country.

Johanna SivunenChildren's Hospital, University of Helsinki and Helsinki University Hospital, Biomedicum Helsinki 2C, PO Box 705, 00290, Helsinki, Finland. johanna.sivunen@hus.fi.
Susann KarlbergChildren's Hospital, University of Helsinki and Helsinki University Hospital, Biomedicum Helsinki 2C, PO Box 705, 00290, Helsinki, Finland.
Jouko LohiDepartment of Pathology, University of Helsinki, Helsinki, Finland.
Niklas KarlbergChildren's Hospital, University of Helsinki and Helsinki University Hospital, Biomedicum Helsinki 2C, PO Box 705, 00290, Helsinki, Finland.
Marita Lipsanen-NymanChildren's Hospital, University of Helsinki and Helsinki University Hospital, Biomedicum Helsinki 2C, PO Box 705, 00290, Helsinki, Finland.
Hannu JalankoChildren's Hospital, University of Helsinki and Helsinki University Hospital, Biomedicum Helsinki 2C, PO Box 705, 00290, Helsinki, Finland.
University of Helsinki · FIHelsinki University Hospital · FI

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMulibrey nanism (MUL) is a rare inherited disease caused by genetic defects affecting peroxisomal TRIM37 protein. MUL affects multiple organs, leading to growth retardation and early onset type 2 diabetes. We aimed to characterize the structure and function of kidneys and the urinary tract in a large cohort of Finnish MUL patients.

methodsUltrasound, magnetic resonance imaging (MRI), and autopsy findings of the kidneys and urinary tract from 101 MUL patients were retrospectively analyzed. Renal function was examined using blood and urine biochemistry. Kidney pathology was assessed by histology and immunohistochemistry from biopsy and autopsy samples.

resultsStructural anomalies of the kidneys and urinary tract were found in 13 % of MUL patients and renal tumors and macroscopic cystic lesions in 14 % and 43 % respectively. Overall, kidney histology was well preserved, but glomerular cysts with a wide Bowman's space were observed in most samples (87 %). Also, prominent and abundant blood vessels with thick walls were typically seen. Expression of endothelial cell markers and angiogenic growth factors PDGF-B and FGF1 (but not VEGF-A) was significantly increased in MUL kidneys. Markers of fibrosis and epithelial-mesenchymal transformation, α-SMA, and vimentin were moderately up-regulated. Despite radiological and histological changes, most MUL patients (age 0.2-51 years) had normal kidney function. However, 9 out of 36 patients (25 %) had hypertension and 6 out of 26 (23 %) had mildly decreased glomerular filtration.

conclusionsGenetic defects in the TRIM37 gene lead to an increased risk for kidney anomalies, renal tumors, and solitary cysts in addition to glomerular cystic lesions, but not to progressive deterioration of renal function.

Indexed as

AdolescentAdultChildChild, PreschoolFemaleFinlandGlomerular Filtration RateHumansInfantKidneyKidney Diseases, CysticKidney NeoplasmsMagnetic Resonance ImagingMaleMiddle AgedMulibrey NanismNuclear ProteinsTRIM37 protein, humanTripartite Motif ProteinsUbiquitin-Protein LigasesGlomerular cystsKidneyMulibrey nanismRenal functionTRIM37

Identifiers

PMID28432469
OpenAlexW2606728613

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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.