From symptomatic management to precision medicine
Xiao Han, Shaozhong Xian, Yukun LiuBackground:
Primary hyperoxaluria (PH) is a rare, inherited metabolic disorder characterized by excessive oxalate production and progressive renal impairment. This study aimed to systematically analyze global research trends in PH from 1990 to 2025 using bibliometric methods with a focus on the evolution from conventional management strategies to emerging precision medicine approaches.
Methods:
Publications related to PH were retrieved from the Web of Science Core Collection (1990–September 2025; retrieval date: September 15, 2025). Bibliometric and visualization analyses were performed using VOSviewer (version 1.6.20), CiteSpace (version 6.3.R1), and R software (version 4.3.2) to assess publication trends, collaborative networks, co-citation patterns, and keyword evolution.
Results:
A total of 1630 publications were included in the analysis, demonstrating a marked increase in research output after 2020. The United States contributed the largest proportion of publications and had the highest total citation count, while European countries and China showed increasing research participation. Keyword and co-citation analyses revealed an early focus on clinical manifestations and transplantation-based management, followed by a transition toward molecular mechanisms and ribonucleic acid (RNA) interference-based therapies. Recently, RNA interference-based therapies and related metabolic targets have emerged as major research hotspots, whereas gene-editing approaches remain an emerging preclinical direction.
Conclusion:
Global research on PH has undergone a clear thematic shift from symptomatic management to molecularly targeted RNA-based therapies. RNA interference represents the current research frontier, while gene-editing technologies are still in the preclinical stage and represent a long-term potential direction for future research. This study provides a comprehensive overview of the intellectual structure and evolving landscape of PH research.