Evidence map›Paper›PMID 41828581›Full record

ArticleInternational journal of molecular sciences2026

The Importance of Molecular Testing in the Diagnosis of Genetic Syndromes with Chronic Kidney Disease: Genotype-Phenotype Correlations.

Lăcrămioara Ionela Butnariu, Radu Russu, Ramona Geanina Babici, Aurora Băgiag, Laura Mihaela Trandafir, Elena Țarcă, Paula Popovici, Nicoleta Gimiga, Iuliana Magdalena Starcea

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

9 authors.

Lăcrămioara Ionela ButnariuDepartment of Medical Genetics, Faculty of Medicine, Grigore T. Popa University of Medicine and Pharmacy, 700115 Iasi, Romania.ORCID 0000-0002-6713-4244
Radu RussuDepartament of Nefrology, Saint Mary's Emergency Children Hospital, 700309 Iași, Romania.
Ramona Geanina BabiciDepartment of Medical Genetics, Faculty of Medicine, Grigore T. Popa University of Medicine and Pharmacy, 700115 Iasi, Romania.
Aurora BăgiagDepartment of Modern Languages, "Iuliu Haţieganu" University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania.
Laura Mihaela TrandafirDepartment of Medical Genetics, Faculty of Medicine, Grigore T. Popa University of Medicine and Pharmacy, 700115 Iasi, Romania.ORCID 0000-0002-8326-7610
Elena ȚarcăDepartment of Medical Genetics, Faculty of Medicine, Grigore T. Popa University of Medicine and Pharmacy, 700115 Iasi, Romania.ORCID 0000-0002-3018-8011
Paula PopoviciDepartment of Medical Genetics, Faculty of Medicine, Grigore T. Popa University of Medicine and Pharmacy, 700115 Iasi, Romania.
Nicoleta GimigaDepartment of Medical Genetics, Faculty of Medicine, Grigore T. Popa University of Medicine and Pharmacy, 700115 Iasi, Romania.ORCID 0000-0002-8713-5367
Iuliana Magdalena StarceaDepartment of Medical Genetics, Faculty of Medicine, Grigore T. Popa University of Medicine and Pharmacy, 700115 Iasi, Romania.ORCID 0000-0002-3937-7425

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Globally, chronic kidney disease (CKD) affects over 800 million individuals and is characterized by significant genetic complexity. More than 600 genes are associated with hereditary kidney disease, which may manifest as isolated kidney issues or as part of a syndrome that also includes extrarenal manifestations. The aim of this study was to identify genetic variants in a group of ten patients who presented with clinical signs suggestive of genetic syndromes associated with CKD, or who were asymptomatic but had a positive family history of CKD. Extensive genetic testing (targeted gene panels and whole-exome sequencing-WES) identified a mutation in the

Indexed as

Genetic Association StudiesRenal Insufficiency, ChronicAdolescentAdultAutoantigensBartter SyndromeChildCollagen Type IVFemaleGenetic TestingHepatocyte Nuclear Factor 1-betaHumansMaleMiddle AgedMutationNephritis, HereditaryAutoantigensCOL4A5 protein, humanCollagen Type IVHepatocyte Nuclear Factor 1-betaHNF1B protein, humanTRPP Cation Channelstype IV collagen alpha3 chainAlport syndromeBartter syndromechronic kidney diseasegenetic counselinggenetic testingMODY5polycystic kidney disease

Identifiers

PMID41828581
PMCPMC12986390

What Socratic 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 Socratic graph.