Evidence map›Paper›PMID 39948544›Full record

ArticleBMC nephrology2025

The importance of a multidisciplinary approach in two tricky cases: the perfect match for Fabry disease.

Gian Marco Berti, Valeria Aiello, Gisella Vischini, Sarah Lerario, Francesca Ciurli, Marisa Santostefano, Vincenzo Donadio, Elena Biagini, Michela Fresina, Benedetta Fabbrizio and 6 more

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

Article in BMC nephrology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

16 authors.

Gian Marco BertiDepartment of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum - University of Bologna, Bologna, Italy.
Valeria AielloNephrology, Dialysis and Kidney Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Gisella VischiniNephrology, Dialysis and Kidney Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Sarah LerarioNephrology, Dialysis and Kidney Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Francesca CiurliNephrology, Dialysis and Kidney Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Marisa SantostefanoNephrology, Dialysis and Kidney Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Vincenzo DonadioNeuromuscular and Neuroimmunology Unit, Bellaria Hospital, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.
Elena BiaginiCardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Michela FresinaDepartment of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum - University of Bologna, Bologna, Italy.
Benedetta FabbrizioPathology Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Francesca MontanariMedical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, 40138, Italy.
Daniela TurchettiDepartment of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum - University of Bologna, Bologna, Italy.
Gianandrea PasquinelliDepartment of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum - University of Bologna, Bologna, Italy.
Renzo MignaniDepartment of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum - University of Bologna, Bologna, Italy.
Gaetano La MannaDepartment of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum - University of Bologna, Bologna, Italy. gaetano.lamanna@unibo.it.
Irene CapelliDepartment of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum - University of Bologna, Bologna, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Anderson-Fabry disease (AFD) is a multisystem X-linked lysosomal storage disorder caused by a deficiency in the enzyme α-galactosidase A (α-Gal A). This deficiency results in the intracellular accumulation of glycosphingolipids, primarily uncleaved globotriaosylceramide (Gb3) and its deacylated form, lyso-globotriaosylceramide (Lyso-Gb3), leading to progressive organ damage and functional impairment. The diagnostic evaluation for AFD involves clinical assessment and family history, supported by biochemical testing (α-Gal A enzyme activity and Lyso-Gb3 levels) and genetic analysis of the GLA gene. In cases of unexplained renal impairment or when genetic analysis is inconclusive, kidney biopsy is often required to confirm the diagnosis and guide targeted treatments. However, histological findings in kidney biopsies may sometimes be nonspecific, complicating the diagnostic process. This article aims to provide an updated perspective on the role of kidney biopsy in AFD, illustrating two cases that exemplify its pivotal role in confirming or excluding the suspected disease, proving to be both decisive and confounding in this complex clinical setting.

Indexed as

Fabry DiseaseKidneyalpha-GalactosidaseBiopsyHumansalpha-GalactosidaseAnderson-Fabry DiseaseGenetic testKidney biopsyZebra bodies

Identifiers

PMID39948544
PMCPMC11827196

What OpenQuestion holds

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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.