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Purpose <p>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.</p> Results <p>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&#xa0;years (range: 1&#xa0;month to 40&#xa0;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.</p> Conclusions <p>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.</p>

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The Gaucher Earlier Diagnosis Consensus point-scoring system for children and young adults: a retrospective and prospective evaluation in Korea

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年11月10日

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  • Seung Min Hahn,
  • Minseok Kim,
  • Youna Kim,
  • Jiyoung Oh,
  • Se Hee Kim,
  • Hong Koh,
  • Sung-Eun Kim,
  • Nack-Gyun Chung,
  • Ye Jee Shim,
  • Hawk Kim,
  • Jae Min Lee,
  • Sung-Soo Yoon,
  • Ho Joon Im,
  • Hyoung Jin Kang,
  • Young Rok Do,
  • Chung Mo Nam,
  • Chuhl Joo Lyu

摘要

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.