Department of Pediatrics, Beijing Friendship Hospital, Capital Medical University.
NHC Key Laboratory of Food Safety Risk Assessment, China National Center for Food Safety Risk Assessment.
J Pediatr Hematol Oncol. 2023 May 1;45(4):181-188. doi: 10.1097/MPH.0000000000002506. Epub 2022 Jul 22.
Gaucher disease [GD], an autosomal recessive lysosomal storage disorder, is characterized by progressive lysosomal storage of glucocerebroside in macrophages predominantly in bone, bone marrow, liver, and spleen. Meta-analysis of global GD epidemiology was not available before this study.
To provide a systematic review and meta-analysis of birth prevalence and prevalence of GD in multiple countries. MEDLINE and EMBASE databases were searched for original research articles on the epidemiology of GD from inception until July 21, 2021. Meta-analysis, adopting a random-effects logistic model, was performed to estimate the birth prevalence and prevalence of GD.
Eighteen studies that were screened of 1874 records were included for data extraction. The studies that fulfilled the criteria for inclusion involved 15 areas/countries. The global birth prevalence of GD was 1.5 cases [95% confidence interval: 1.0 to 2.0] per 100,000 live births. The global prevalence of GD was 0.9 cases [95% confidence interval: 0.7 to 1.1] per 100,000 inhabitants.
This is the first comprehensive systematic review that presented quantitative data of GD global epidemiology. Quantitative data on global epidemiology of GD could be the fundamental to evaluate the global efforts on building a better world for GD patients.
戈谢病[GD]是一种常染色体隐性溶酶体贮积病，其特征是葡萄糖脑苷脂在巨噬细胞中进行进行性溶酶体贮积，主要发生在骨骼、骨髓、肝脏和脾脏。在此项研究之前，全球 GD 流行病学的荟萃分析尚不可用。
对多个国家的戈谢病的发病情况进行系统回顾和荟萃分析。检索 MEDLINE 和 EMBASE 数据库，以获取关于 GD 流行病学的原始研究文章，检索时间从建库至 2021 年 7 月 21 日。采用随机效应逻辑模型进行荟萃分析，以估计 GD 的发病情况。
对 1874 条记录进行筛选后，有 18 项研究符合纳入标准并进行了数据提取。符合纳入标准的研究涉及 15 个地区/国家。全球 GD 的出生患病率为 1.5 例[95%置信区间：1.0 至 2.0]每 100,000 例活产。全球 GD 的患病率为 0.9 例[95%置信区间：0.7 至 1.1]每 100,000 名居民。
这是第一项全面的戈谢病全球流行病学系统评价，提供了定量数据。定量数据可用于评估全球为戈谢病患者建立更美好世界的努力。
