ENOrphanet Journal of Rare Diseases | Global Scientific Output on Familial Hypophosphataemic Rickets: A Bibliometric Analysis from 2000 to 2022
Date: April 05, 2025
Classification: Frontiers
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This article systematically analyzes the global scientific output on familial hypophosphataemic rickets using bibliometric methods, revealing research trends, international collaboration networks, and high-impact countries, providing important reference for related studies.
Literature Overview
This article, titled 'Bibliometric approach to worldwide scientific production of familial hypophosphataemic rickets in Scopus (2000–2022)', published in the Orphanet Journal of Rare Diseases, reviews and summarizes the global scientific output on familial hypophosphataemic rickets, covering literature growth trends, major contributing countries and journals, international collaboration networks, and keyword co-occurrence analysis. The study further highlights the rising trends of keywords such as burosumab, quality of life, and chronic complications in recent research, reflecting the evolution of research focus in this field.
Background Knowledge
Familial hypophosphataemic rickets is a group of inherited metabolic disorders characterized by renal phosphate wasting, primarily including X-linked hypophosphataemia (XLH), autosomal dominant, and autosomal recessive forms. The primary pathogenic mechanism involves excessive or dysfunctional secretion of fibroblast growth factor 23 (FGF23), leading to impaired renal phosphate reabsorption and reduced synthesis of 1,25-dihydroxyvitamin D, which results in osteomalacia and rickets-like bone changes. Clinical features include growth retardation, skeletal deformities, bone pain, and reduced mobility, often accompanied by chronic pain and decreased quality of life in adulthood. Current treatments include traditional oral phosphate and active vitamin D, but novel biological agents such as burosumab are gradually reshaping therapeutic approaches. Although the disease exhibits genetic heterogeneity, research remains largely concentrated in a few high-income countries, with limited participation from low-income nations, delayed diagnosis, and resource constraints. This article provides a bibliometric analysis of the scientific output from 2000 to 2022, offering data support for policy-making and international collaboration.
Research Methods and Experimental Design
This study adopts an observational, descriptive, and cross-sectional design, conducting a bibliometric analysis of familial hypophosphataemic rickets-related publications from 2000 to 2022 using the Scopus database. The search strategy was based on Medical Subject Headings (MeSH) from PubMed, combined with title, abstract, and keyword screening. Research indicators include the number of publications, citation frequency, H-index, R-index, international collaboration networks, and keyword co-occurrence analysis, with visualization performed using VOSviewer software. Data analysis was conducted using Microsoft Excel 2019, covering dimensions such as country, institution, journal, and publication type.
Key Findings and Insights
Significance and Future Directions
This is the first global bibliometric analysis of familial hypophosphataemic rickets, revealing research distribution, international collaboration, and thematic evolution. Future efforts should focus on enhancing research participation from low- and middle-income countries, promoting data sharing, and establishing standardized platforms to improve global research coverage and therapeutic accessibility.
Conclusion
As a rare inherited bone metabolic disorder, research on familial hypophosphataemic rickets remains largely concentrated in high-income countries, with the USA, Japan, and the UK as major contributors. Bibliometric analysis shows continuous research growth, with recent emphasis on therapeutic strategies, quality of life assessments, and chronic complication management. While international collaboration networks exist, low- and middle-income countries remain on the periphery, necessitating strengthened research infrastructure and collaboration. The research focus is shifting from basic mechanisms toward clinical translation with the introduction of novel biological agents such as burosumab. Additionally, the lack of a unified data registration platform and standardized research methodologies remains a limiting factor. This study provides essential data support for shaping research policies, promoting international collaboration, and advancing rare disease research.
