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Knowledge Mapping of Alport Syndrome: A Bibliometric Analysis From 2000 to 2025
Xiujuan Cao1,2, Wei Zhou1,3, Yong Wang4
1Department of Nephrology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children's Regional Medical Center, Hangzhou, Zhejiang, China.
Molecular Genetics & Genomic Medicine
|July 17, 2026
Summary
Research on Alport syndrome (AS) is growing, with a significant increase in publications and citations. This bibliometric analysis maps the field, identifying key authors, countries, and research trends in understanding this hereditary kidney disease.
Area of Science:
- Nephrology
- Genetics
- Bibliometrics
Background:
- Alport syndrome (AS) is a hereditary kidney disease causing hematuria, renal insufficiency, hearing loss, and eye issues.
- Mutations in COL4A3, COL4A4, or COL4A5 genes impair type IV collagen, leading to glomerular dysfunction and kidney failure.
- A comprehensive global research evaluation for Alport syndrome was previously unavailable.
Purpose of the Study:
- To conduct a systematic bibliometric analysis of the global research landscape of Alport syndrome.
- To identify research trends, hotspots, and influential contributors in Alport syndrome research.
- To provide insights for future research directions and clinical practice.
Main Methods:
- Bibliometric analysis utilizing Biblioshiny, VOSviewer, and CiteSpace.
- Data sourced from the Web of Science Core Collection (2000-2025), including 1205 publications.
- Analysis of publication output, citations, co-authorship, co-citation, and keywords.
Main Results:
- A consistent upward trend in annual Alport syndrome publications from 2000-2025.
- A total of 34,314 citations across 1205 publications, with R. C. Wiggins' 2007 study being highly cited.
- Judy Savige identified as the most prolific author; the United States leads in contributions. Key terms include 'natural history,' 'IV collagen,' and 'identification.'
Conclusions:
- Global research interest in Alport syndrome has significantly increased.
- Academic collaboration is advancing the understanding of Alport syndrome pathogenesis.
- This analysis highlights research frontiers and informs future Alport syndrome studies and clinical management.
