Abstract
Incidence and prevalence estimates for Gaucher disease (GD) are scarce for this rare disease and can be variable within the same region. This review provides a qualitative synthesis of global GD incidence and prevalence estimates, GD1–3 type-specific and overall, published in the last 10 years. A targeted literature search was conducted across multiple databases from January 2011 to September 2020, including web-based sources and congress proceedings to May 2021. Searches yielded 490 publications, with 31 analyzed: 20 cohort studies (15 prospective, 5 retrospective), 6 cross-sectional studies, 5 online reports (most from Europe (n = 11) or North America (n = 11); one multiregional). Across all GD types, incidence estimates ranged 0.45–25.0/100,000 live births (16 studies), lowest for Asia-Pacific. Incidence of GD1: 0.45–22.9/100,000 live births (Europe and North America) and GD3: 1.36/100,000 live births (Asia-Pacific only). GD type-specific prevalence estimates per 100,000 population were GD1: 0.26–0.63; GD2 and GD3: 0.02–0.08 (Europe only); estimates for GD type unspecified or overall ranged 0.11–139.0/100,000 inhabitants (17 studies), highest for North America. Generalizability was assessed as “adequate”or “intermediate” for all regions with data. GD incidence and prevalence estimates for the last 10 years varied considerably between regions and were poorly documented outside Europe and North America. Data for GD2 and GD3 were limited.
Funder
Takeda Development Center Americas, Inc.
Reference66 articles.
1. Lysosomal storage diseases;Platt;Nat. Rev. Dis. Prim.,2018
2. Gaucher disease epidemiology and natural history: A comprehensive review of the literature;Nalysnyk;Hematology,2017
3. Wang, M., Li, F., Zhang, J., Lu, C., and Kong, W. (2022). Global Epidemiology of Gaucher Disease: An Updated Systematic Review and Meta-analysis. J. Pediatr. Hematol. Oncol.
4. Gaucher disease: Mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA);Hruska;Hum. Mutat.,2008
5. Gaucher disease: Insights from a rare Mendelian disorder;Sidransky;Discov. Med.,2012
Cited by
7 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献