The Gaucher Earlier Diagnosis Consensus point-scoring system for children and young adults: a retrospective and prospective evaluation in Korea
Year: 2025
Type: article
Study design: Observational Study
Abstract: PURPOSE: Gaucher disease (GD) is an autosomal recessive condition caused by insufficient glucocerebrosidase activity. The Gaucher Earlier Diagnosis Consensus (GED-C) initiative created a point-scoring system (PSS) to facilitate the early identification of GD based on significant indicators and covariables. This study aimed to evaluate the applicability and utility of the GED-C PSS in pediatric and young adult patients in Korea. RESULTS: This study included both retrospective analysis and prospective recruitment. Subject recruitment involved 14 sites across 13 hospitals in Korea, where patients of any age meeting GED-C criteria were recruited, and blood samples were collected. Data of 513 subjects were analyzed and two patients were confirmed to have GD during prospective enrollment. The median age of participants was 10 years (range: 1 month to 40 years). Receiver operating characteristic analysis revealed a cutoff point of 6.5 for GED-C PSS (area under the curve of 0.9883) demonstrated high sensitivity (1.0) and specificity (0.97). A histogram indicated that the PSS scores of the two confirmed GD patients were distinct from those of other participants. CONCLUSIONS: The study suggests that GED-C PSS shows potential for the early diagnosis of GD, supporting its broader clinical use for both children and adults.
Institutions: Yonsei University, Severance Hospital, Yonsei University Health System, Yonsei Cancer Hospital, Kyungpook National University Hospital, Kyungpook National University Chilgok Hospital, Kyungpook National University, The Catholic University of Korea Seoul St. Mary's Hospital, Catholic University of Korea, Gachon University Gil Medical Center, Gachon University Medical Center, Pusan National University Children's Hospital, Pusan National University, Seoul National University, Seoul National University Hospital, Asan Medical Center, University of Ulsan, Seoul National University Children's Hospital, Keimyung University Dongsan Medical Center, Keimyung University
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,990
OpenAlex ID: W4416092520