Evidence map›Paper›PMID 40753325›Full record

Observational studyJournal of nephrology2025

Importance of family history and health checkup for school-aged children for type IV collagen-associated nephropathy in hereditary kidney disease.

Ryosuke Kawamoto, Takayasu Mori, Motoko Chiga, Takuya Fujimaru, Azuma Nanamatsu, Tamami Fujiki, Yutaro Mori, Shintaro Mandai, Fumiaki Ando, Koichiro Susa and 3 more

Abstract readObservational Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study in Journal of nephrology, 2025. 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

13 authors.

Ryosuke KawamotoDepartment of Nephrology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo, Tokyo, 113-8519, Japan.
Takayasu MoriDepartment of Nephrology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo, Tokyo, 113-8519, Japan. tmori.kid@tmd.ac.jp.ORCID http://orcid.org/0000-0002-9308-7787
Motoko ChigaDepartment of Nephrology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo, Tokyo, 113-8519, Japan.
Takuya FujimaruDepartment of Nephrology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo, Tokyo, 113-8519, Japan.
Azuma NanamatsuDepartment of Nephrology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo, Tokyo, 113-8519, Japan.
Tamami FujikiDepartment of Nephrology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo, Tokyo, 113-8519, Japan.
Yutaro MoriDepartment of Nephrology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo, Tokyo, 113-8519, Japan.
Shintaro MandaiDepartment of Nephrology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo, Tokyo, 113-8519, Japan.
Fumiaki AndoDepartment of Nephrology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo, Tokyo, 113-8519, Japan.
Koichiro SusaDepartment of Nephrology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo, Tokyo, 113-8519, Japan.
Tatemitsu RaiDepartment of Nephrology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo, Tokyo, 113-8519, Japan.
Eisei SoharaDepartment of Nephrology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo, Tokyo, 113-8519, Japan.
Shinichi UchidaDepartment of Nephrology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo, Tokyo, 113-8519, Japan.

Funding

Crowdfunding backers on the ''READYFOR'' platform 91AA003949Japan Agency for Medical Research and Development 22ek0109554h0002Japan Society for the Promotion of Science 19H01049Japan Society for the Promotion of Science 19H03672Japan Society for the Promotion of Science 19K17733Japan Society for the Promotion of Science 20K22926Japan Society for the Promotion of Science 21K08249Japan Society for the Promotion of Science 22H03085Japan Society for the Promotion of Science 22K16233Japan Society for the Promotion of Science 22K19518Japan Society for the Promotion of Science 24K02465Japan Society for the Promotion of Science 24K11381
6 · The paper itself

Abstract

backgroundAdvancements in genetic analysis have revealed a higher prevalence of hereditary kidney disease than expected. This study focuses on the enrollment and analysis of patients with chronic kidney disease (CKD) and a family history of CKD to identify disease-causing variants. Additionally, by incorporating data from childhood urine tests, the study examines the utility of these screenings in early disease detection.

methodsAn observational study utilizing genetic data and clinical assessments from patients with familial CKD. A total of 85 patients with familial CKD, diagnosed by clinicians and confirmed through genetic testing from 2014 to 2020, were included. Patients with cystic kidney diseases were excluded. The presence of COL4As (COL4A3, COL4A4, COL4A5) gene variants and other genetic variants associated with kidney disease was examined using a comprehensive gene panel.

resultsOf the patients, 41.2% had disease-causing variants in COL4As variants. The median age at manifestation onset was significantly lower in the COL4As group compared to patients with other disease-causing variants or those with no identified disease-causing variants. Early manifestations of microscopic hematuria were notably prevalent, indicating potential early markers for genetic kidney diseases.

conclusionsThe findings underscore the importance of family history in diagnosing genetic kidney diseases and suggest that early genetic testing, coupled with regular monitoring of urinary abnormalities, could significantly improve disease management and outcomes. Further research is necessary to explore comprehensive genetic screening and its integration into routine clinical practice.

Indexed as

Collagen Type IVMedical History TakingNephritis, HereditaryRenal Insufficiency, ChronicAdolescentChildChild, PreschoolFemaleGenetic Predisposition to DiseaseGenetic TestingHematuriaHumansMaleMutationPhysical ExaminationCOL4A4 protein, humanCOL4A5 protein, humanCollagen Type IVAlport syndromeCOL4A3COL4A4COL4A5School urinalysisThin basement membrane disease

Identifiers

PMID40753325
PMCPMC12484354

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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.