Knowledge Mapping of Alport Syndrome: A Bibliometric Analysis From 2000 to 2025

Alport syndrome (AS) is a multisystem hereditary disorder characterized by persistent hematuria, progressive renal insufficiency, sensorineural hearing loss, and ocular abnormalities. Its pathogenesis is mainly due to mutations in COL4A3, COL4A4, or COL4A5 genes encoding type IV collagen α chains, leading to glomerular dysfunction and end-stage renal disease. A systematic evaluation of its global research landscape is lacking, and bibliometric analysis can fill this gap.

A comprehensive bibliometric analysis was conducted using Biblioshiny, VOSviewer, and CiteSpace. Data were extracted from the Web of Science Core Collection (2000-2025), with 1205 valid publications included. Multiple dimensions including annual output, citations, co-authorship, and keywords were analyzed.

Bibliometric analysis showed that AS-related annual publications had a consistent upward trend from 2000 to 2025. The 1205 included publications accumulated 34,314 citations, with the most cited being R. C. Wiggins' 2007 original study (622 citations). Co-authorship analysis identified Judy Savige as the most prolific author and the United States as the leading contributing country. Co-citation analysis mapped the field's intellectual structure, and keywords included "natural history," "IV collagen," and "identification" besides core terms "Alport syndrome" and "mutations".

Global interest in AS research has increased significantly. With academic exchanges and international cooperation, its pathogenesis mechanisms are gradually clarified. This bibliometric analysis identifies research hotspots and guides future directions, providing references for related research and clinical practice.