Evidence map›Paper›PMID 22898981›Full record

ReviewPediatric nephrology (Berlin, Germany)2013

Renal complications of Fabry disease in children.

Behzad Najafian, Michael Mauer, Robert J Hopkin, Einar Svarstad

Registry-linked trialOpen access · greenAbstract readReview
In one paragraph

Review in Pediatric nephrology (Berlin, Germany), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02994303 (Podocyturia, a Non-Invasive Predictor of Renal Dysfunction in Fabry Nephropathy), which is not on this map. Cited by 26 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed, 2 pooled it
2.2field-weighted citation impact, top 13% 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.

NCT02994303 unknown statusnot on this mapstarted 2014, after this paper: background citation

Podocyturia, a Non-Invasive Predictor of Renal Dysfunction in Fabry Nephropathy

TypeobservationalSponsorUniversity of WashingtonRan2014 to 2019Enrolled58ConditionsFabry Disease
3 · Its place in the literature

Who cites it

26 citing papers in PubMed, 2 syntheses or guidelines pooled it, 52 citations in OpenAlex.

  1. Kidney biopsy guidebook 2020 in Japan.Clinical and experimental nephrology · 2021
    Guideline
  2. Fabry disease in infancy and early childhood: a systematic literature review.Genetics in medicine : official journal of the American College of Medical Genetics · 2015
    Pooled it
  3. Trial
  4. Review
  5. Drug-induced phospholipidosis of the kidney suspected to be caused by atomoxetine.Journal of pathology and translational medicine · 2026
    Article
  6. Article
  7. Article
  8. Review
  9. Article
  10. Article
  11. Article
  12. Reduced α-galactosidase A activity in zebrafish (Molecular genetics and metabolism reports · 2022
    Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Paediatric Fabry disease.Translational pediatrics · 2016
    Review
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

4 authors at 4 institutions in 3 countries.

Behzad NajafianDepartment of Pathology, University of Washington, 1959 NE Pacific St., Seattle, WA 98195, USA. najafian@u.washington.edu
Michael Mauer
Robert J Hopkin
Einar Svarstad
Cincinnati Children's Hospital Medical Center · USHaukeland University Hospital · NOUniversity of Minnesota · USUniversity of Washington · US

Funding

Training & EducationU54NS065768 · NINDS · UNIVERSITY OF MINNESOTA · PI WHITLEY, CHESTER B. · 2009 to 2024
$17.7M
Cincinnati Center for Clinical and Translational Sciences and TrainingUL1TR000077 · NCATS · UNIVERSITY OF CINCINNATI · PI HEUBI, JAMES E. · 2012 to 2014
$9.9M
NCATS NIH HHS UL1 TR000077NINDS NIH HHS 5U54NS065768-02NINDS NIH HHS U54 NS065768
6 · The paper itself

Abstract

Fabry disease is an X-linked α-galactosidase A deficiency, resulting in accumulation of glycosphingolipids, especially globotriaosylceramide, in cells in different organs in the body. Renal failure is a serious complication of this disease. Fabry nephropathy lesions are present and progress in childhood while the disease commonly remains silent by routine clinical measures. Early and timely diagnosis of Fabry nephropathy is crucial since late initiation of enzyme replacement therapy may not halt progressive renal dysfunction. This may be challenging due to difficulties in diagnosis of Fabry disease in children and absence of a sensitive non-invasive biomarker of early Fabry nephropathy. Accurate measurement of glomerular filtration rate and regular assessment for proteinuria and microalbuminuria are useful, though not sensitive enough to detect early lesions in the kidney. Recent studies support the value of renal biopsy in providing histological information relevant to kidney function and prognosis, and renal biopsy could potentially be used to guide treatment decisions in young Fabry patients. This review aims to provide an update of the current understanding, challenges, and needs to better approach renal complications of Fabry disease in children.

Indexed as

AdolescentAge Factorsalpha-GalactosidaseBiopsyChildChild, PreschoolDisease ProgressionEarly DiagnosisEnzyme Replacement TherapyFabry DiseaseFemaleGlomerular Filtration RateHumansKidneyKidney DiseasesMalealpha-Galactosidase

Identifiers

PMID22898981
PMCPMC3811930
OpenAlexW2014987870

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

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.