Evidence map›Paper›PMID 38338714›Full record

ArticleInternational journal of molecular sciences2024

What Is Hidden in Patients with Unknown Nephropathy? Genetic Screening Could Be the Missing Link in Kidney Transplantation Diagnosis and Management.

Adele Mitrotti, Ighli Di Bari, Marica Giliberti, Rossana Franzin, Francesca Conserva, Anna Chiusolo, Maddalena Gigante, Matteo Accetturo, Cesira Cafiero, Luisa Ricciato and 8 more

Open access · goldAbstract read
In one paragraph

Article in International journal of molecular sciences, 2024. 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, top 99% 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

1 citing paper in PubMed, 0 citations in OpenAlex.

  1. 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

18 authors at 2 institutions in 1 country.

Adele MitrottiDepartment of Precision and Regenerative Medicine and Ionian Area (DIMEPRE-J), University of Bari Aldo Moro, 70124 Bari, Italy.
Ighli Di BariDepartment of Precision and Regenerative Medicine and Ionian Area (DIMEPRE-J), University of Bari Aldo Moro, 70124 Bari, Italy.
Marica GilibertiDepartment of Precision and Regenerative Medicine and Ionian Area (DIMEPRE-J), University of Bari Aldo Moro, 70124 Bari, Italy.
Rossana FranzinDepartment of Precision and Regenerative Medicine and Ionian Area (DIMEPRE-J), University of Bari Aldo Moro, 70124 Bari, Italy.ORCID 0000-0001-7907-7614
Francesca ConservaDepartment of Precision and Regenerative Medicine and Ionian Area (DIMEPRE-J), University of Bari Aldo Moro, 70124 Bari, Italy.ORCID 0000-0003-2863-864X
Anna ChiusoloDepartment of Precision and Regenerative Medicine and Ionian Area (DIMEPRE-J), University of Bari Aldo Moro, 70124 Bari, Italy.
Maddalena GiganteDepartment of Precision and Regenerative Medicine and Ionian Area (DIMEPRE-J), University of Bari Aldo Moro, 70124 Bari, Italy.ORCID 0000-0001-8228-7639
Matteo AccetturoDepartment of Precision and Regenerative Medicine and Ionian Area (DIMEPRE-J), University of Bari Aldo Moro, 70124 Bari, Italy.
Cesira CafieroDepartment of Precision and Regenerative Medicine and Ionian Area (DIMEPRE-J), University of Bari Aldo Moro, 70124 Bari, Italy.
Luisa RicciatoDepartment of Precision and Regenerative Medicine and Ionian Area (DIMEPRE-J), University of Bari Aldo Moro, 70124 Bari, Italy.
Emma Diletta SteaDepartment of Precision and Regenerative Medicine and Ionian Area (DIMEPRE-J), University of Bari Aldo Moro, 70124 Bari, Italy.
Cinzia ForleoDepartment of Precision and Regenerative Medicine and Ionian Area (DIMEPRE-J), University of Bari Aldo Moro, 70124 Bari, Italy.ORCID 0000-0002-9452-4037
Anna GalloneDepartment of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari Aldo Moro, 70121 Bari, Italy.ORCID 0000-0002-2252-9584
Michele RossiniDepartment of Precision and Regenerative Medicine and Ionian Area (DIMEPRE-J), University of Bari Aldo Moro, 70124 Bari, Italy.
Marco FiorentinoDepartment of Precision and Regenerative Medicine and Ionian Area (DIMEPRE-J), University of Bari Aldo Moro, 70124 Bari, Italy.ORCID 0000-0001-7334-8372
Giuseppe CastellanoDepartment of Clinical Sciences and Community Health, University of Milano, 20122 Milano, Italy.
Paola PontrelliDepartment of Precision and Regenerative Medicine and Ionian Area (DIMEPRE-J), University of Bari Aldo Moro, 70124 Bari, Italy.ORCID 0000-0002-7654-8318
Loreto GesualdoDepartment of Precision and Regenerative Medicine and Ionian Area (DIMEPRE-J), University of Bari Aldo Moro, 70124 Bari, Italy.
University of Bari Aldo Moro · ITUniversity of Milan · IT

Funding

Sanofi (Italy) SAGZ ISS n°3/2017
6 · The paper itself

Abstract

Between 15-20% of patients with end stage renal disease (ESRD) do not know the cause of the primary kidney disease and can develop complications after kidney transplantation. We performed a genetic screening in 300 patients with kidney transplantation, or undiagnosed primary renal disease, in order to identify the primary disease cause and discriminate between overlapping phenotypes. We used a custom-made panel for next-generation sequencing (Agilent technology, Santa Clara, CA, USA), including genes associated with Fabry disease, podocytopaties, complement-mediated nephropathies and Alport syndrome-related diseases. We detected candidate diagnostic variants in genes associated with nephrotic syndrome and Focal Segmental Glomerulosclerosis (FSGS) in 29 out of 300 patients, solving about 10% of the probands. We also identified the same genetic cause of the disease (

Indexed as

Fabry DiseaseGlomerulosclerosis, Focal SegmentalKidney DiseasesKidney TransplantationFemaleGenetic TestingHumansKidneyCKDFSGSgenetic testingnext-generation sequencingunknown ESRD

Identifiers

PMID38338714
PMCPMC10855929
OpenAlexW4391169296

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.