ArticleInternational urology and nephrology2026
Bibliometric analysis of Alport syndrome: genetic foundations, clinical implications, and the transition to precision medicine.
Article in International urology and nephrology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundAlport syndrome is a rare genetic disorder characterized by progressive renal impairment, hearing loss, and ocular abnormalities. Our study aimed to elucidate global research trends on Alport syndrome through bibliometric analysis.
methodsA comprehensive bibliometric analysis of Alport syndrome literature (1990-2025) was performed using WoS and Scopus. After merging and de-duplication (n = 2371), CiteSpace, VOSviewer, and Bibliometrix facilitated network visualization, co-occurrence, co-citation, and historiographic evaluations.
resultsResearch on Alport syndrome has grown exponentially since 1990 (2371 documents; 6.04% annual growth), dominated by original articles and moderate international collaboration. The USA leads in output, collaboration, and citations; China's volume is rising with evolving global impact. A hub-and-cluster author structure (e.g., Savige, Gross, Kashtan) publishes mainly in nephrology journals (Kidney International, JASN, Pediatric Nephrology), with interdisciplinary citation flows. Co-citation and bursts trace a shift from GBM/type IV collagen genetics to precision diagnostics and renoprotective therapy. Landmark studies established COL4 mutations, genotype-phenotype links, and early ACE inhibition, defining a gene-structure-phenotype-therapy axis.
conclusionAlport syndrome research has progressed from genetic discovery toward more integrative and precision-focused approaches, supported by expanding global collaboration and contributions from key nephrology journals. Emerging priorities-including earlier diagnosis, renoprotective strategies, and advanced molecular techniques-reflect a sustained shift toward more personalized research directions that may inform future clinical management.
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