562 - A Bibliometric Analysis of Publications on Congenital Nephrotic Syndrome

Publication Number: 4550.562

Vidhya Ravichandran, Texas Tech University Health Sciences Center School of Medicine, amarillo, TX, United States; Tetyana L.. Vasylyeva, TTUHSC, Amarillo, TX, United States

Background: Congenital nephrotic syndrome (CNS) is a rare kidney disorder presenting in infancy, most often due to genetic mutations such as NPHS1 and NPHS2. Despite advances in genetics and nephrology, affected infants progress to end-stage kidney disease, with limited therapeutic options. Its management presents significant challenges, requiring research, fueled by advances in genetics and pediatric nephrology.

Objective: This analysis aims to provide quantitative insights into the evolution of scientific output, collaboration networks, and funding patterns to guide future research priorities and translational opportunities.

Design/Methods: A search of the Web of Science Core Collection database was executed in the following manner using the query ((congenital nephrotic syndrome (Topic) OR ("congenital nephrotic syndrome" (Title) or "congenital nephrotic syndrome" (Abstract)) from 2015 to 2025. Relevant records were retrieved using Web of Science tools.

Results: A total of 514 records on Congenital Nephrotic Syndrome were identified in the Web of Science Core Collection. The analysis revealed a steady scholarly activity over the past decade, with publication counts peaking in 2017 and 2021 (above 60 publications each year). The majority of document types were original research articles (321), followed by review articles (94). The key platform for presentation was the Kidney Week conference. The top publishers were Springer Nature (188 publications) and Elsevier (61). Germany (58) and Japan (54) were the most prolific countries in terms of research volume, while Harvard-affiliated institutions (78 publications) were the leading institutional cluster. The dominant research areas are Urology & Nephrology (238 studies) and Pediatrics (197). Prominent contributors were Nozu K (16) and Ozalitn F (15). Funding was led by the U.S. Department of Health and Human Services (49) and NIH USA (48).

Conclusion(s): This bibliometric analysis reveals that research on congenital nephrotic syndrome has grown consistently over the past decade and is driven by a strong collaboration of international investigators and funding agencies. Continued collaboration and funding are essential, as rare diseases require a coordinated global effort to translate discoveries into therapeutics. Mapping these research landscapes helps identify underexplored areas such as long-term patient outcomes, novel therapeutics, and precision medicine approaches. This analysis provides a roadmap for future research to bridge the gap between genetic discoveries and clinical translation, ultimately with the goal of improving outcomes for affected children.

Geographical distribution of publication as per Web of Science Database
World map showing the geographical distribution of publications. The color gradient represents the number of publications contributed by each country, ranging from 7( light shade) to 58 ( dark shade). Countries with darker colors denote higher research productivity.

Annual trend in the number of publications (2015-2025)
Bar chart showing the annual trend in publications in the Web of Science database on congenital nephrotic syndrome from 2015 to 2025. Peaks are observed in 2017 and 2021, indicating higher publication activity, while lower outputs are noted in 2015 and 2025, reflecting fluctuations in research output over the study period.