Evidence map›Paper›PMID 37850010›Full record

ArticleKidney international reports2023

Diagnosis of Kidney Diseases of Unknown Etiology Through Biopsy-Genetic Analysis.

Thomas Robert, Sophie Greillier, Julia Torrents, Laure Raymond, Marine Dancer, Noémie Jourde-Chiche, Jean-Michel Halimi, Stéphane Burtey, Christophe Béroud, Laurent Mesnard

Open access · goldAbstract read
In one paragraph

Article in Kidney international reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
2.0field-weighted citation impact, top 14% 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

5 citing papers in PubMed, 10 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. The Role of Genetic Testing in Adult CKD.Journal of the American Society of Nephrology : JASN · 2024
    Article
  5. 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

10 authors at 5 institutions in 1 country.

Thomas RobertCenter of Nephrology and Renal Transplantation, Hôpital de la Conception, CHU de Marseille, Marseille, France.
Sophie GreillierCenter of Nephrology and Renal Transplantation, Hôpital de la Conception, CHU de Marseille, Marseille, France.
Julia TorrentsDepartment of Renal Pathology, CHU Timone, AP-HM, Marseille, France.
Laure RaymondGenetics Department, Laboratoire Eurofins Biomnis, Lyon, France.
Marine DancerDepartment of Renal Pathology, CHU Timone, AP-HM, Marseille, France.
Noémie Jourde-ChicheCenter of Nephrology and Renal Transplantation, Hôpital de la Conception, CHU de Marseille, Marseille, France.
Jean-Michel HalimiNéphrologie-Immunologie Clinique, Hôpital Bretonneau, CHU Tours, Tours, France.
Stéphane BurteyCenter of Nephrology and Renal Transplantation, Hôpital de la Conception, CHU de Marseille, Marseille, France.
Christophe BéroudMarseille medical genetics, Bioinformatics & Genetics, INSERM U1251, Aix-Marseille Université, Marseille, France.
Laurent MesnardSoins Intensifs Néphrologiques et Rein Aigu (SINRA), Sorbonne Université, APHP, Hôpital Tenon, Paris, France.
Inserm · FRCentre Hospitalier Universitaire de Tours · FREurofins (France) · FRHôpital de la Conception · FRSorbonne Université · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Previous studies have suggested that genetic kidney diseases in adults are often overlooked, representing up to 10% of all cases of chronic kidney disease (CKD). We present data obtained from exome sequencing (ES) analysis of patients with biopsy-proven undetermined kidney disease (UKD). Methods: ES was proposed during routine clinical care in patients with UKD from January 2020 to December 2021. We used Results: We detected 12 monogenic renal disorders in 21 (40.4%) patients. The most common diagnoses were collagenopathies (8/21,38.1%), Conclusion: ES done in patients with biopsy-proven UKD should be considered as a first-line tool for CKD patients with a family history of kidney disease. Combination of ES and kidney biopsy may have major impacts on kidney disease ontology.

Indexed as

alport diseaseexomeinherited kidney diseasenephrogenomicrenal pathologyundetermined kidney disease

Identifiers

PMID37850010
PMCPMC10577324
OpenAlexW4385146072

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.