Evidence map›Paper›PMID 40660297›Full record

ReviewBMC medical genomics2025

Hereditary kidney disease with auditory abnormalities: analysis of mutations and clinical phenotypes.

Jingru Bi, Wenkai Guo, Pengcheng Ji, Yuansheng Xie

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in BMC medical genomics, 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. 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

4 authors.

Jingru BiSchool of Medicine,Nankai University, Tianjin, 300071, China.
Wenkai GuoSchool of Medicine,Nankai University, Tianjin, 300071, China.
Pengcheng JiDepartment of Nephrology, First Medical Center of Chinese PLA General Hospital, State Key Laboratory of Kidney Diseases, National Clinical Research Center for Kidney Diseases, Beijing Key Laboratory of Medical Devices and Integrated Traditional Chinese and Western Drug Development for Severe Kidney Diseases, Beijing Key Laboratory of Digital Intelligent TCM for the Preventionand Treatment of Pan-vascular Diseases, Key Disciplines of National Administration of Traditional Chinese Medicine(zyyzdxk-2023310), Beijing, 100853, China.
Yuansheng XieSchool of Medicine,Nankai University, Tianjin, 300071, China. xieyuansn@hotmail.com.

Funding

National Key Research and Development Program of China 2016YFC0901502National Natural Science Foundation of China 82174115
6 · The paper itself

Abstract

Clinical observations have indicated that multiple gene mutations can concurrently lead to both renal and auditory abnormalities. To explore the genetic basis of such conditions, this study first searched the PubMed database for relevant diseases and syndromes, followed by a literature review to identify representative diseases with high penetrance of both renal and auditory impairments. Building on this foundation, this review focuses on analyzing the genotype-phenotype correlations of eleven selected hereditary diseases and outlines their corresponding diagnostic and therapeutic strategies. Furthermore, to aid in clinical differential diagnosis, non-genetic factors that may cause renal and auditory dysfunction are also summarized. The findings of this study aim to deepen the understanding of these complex hereditary diseases and provide theoretical support for clinical diagnostic and treatment decisions.

Indexed as

Kidney DiseasesMutationGenetic Association StudiesHumansPhenotypeAlport syndromeChronic kidney diseaseGenetic disordersHearing abnormalitiesRenal abnormalities

Identifiers

PMID40660297
PMCPMC12257844

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.