Bibliometric analysis of Alport syndrome: genetic foundations, clinical implications, and the transition to precision medicine.

BACKGROUND

Alport 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.

METHODS

A 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.

RESULTS

Research 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.

CONCLUSION

Alport 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.