Syreon Research Institute, Budapest, Hungary.
Shire, 300 Shire Way, Lexington, MA, 02421, USA.
Orphanet J Rare Dis. 2018 Apr 10;13(1):53. doi: 10.1186/s13023-018-0796-4.
Sanfilippo syndrome (mucopolysaccharidosis [MPS] III subtypes A, B, C, and D) is a rare autosomal recessive inherited metabolic disorder that causes progressive neurocognitive degeneration. This systematic literature review was undertaken to compile and assess published epidemiological data, including various frequency measures and geographical variation on Sanfilippo syndrome.
The following databases were systematically searched for terms related to Sanfilippo syndrome epidemiology: Medline, Embase, Cochrane Database of Systematic Reviews, Academic Search Complete, Cumulative Index to Nursing and Allied Health Literature, and the Centre for Reviews and Dissemination. Qualitative synthesis of research findings was performed.
Of 2794 publications found in the initial search, 116 were deemed eligible after title and abstract screening. Following full-text review, 46 papers were included in the qualitative synthesis. Results of this systematic literature review indicate that lifetime risk at birth ranges from 0.17-2.35 per 100,000 live births for all 4 subtypes of MPS III together, and from 0.00-1.62 per 100,000 live births for the most frequent subtype, MPS IIIA.
All 4 subtypes of MPS III are exceptionally rare, but they each have devastating effects on children. Higher-quality epidemiological data are needed to appropriately target resources for disease research and management.
黏多糖贮积症 III 型（Sanfilippo 综合征，MPS III 亚型 A、B、C 和 D）是一种罕见的常染色体隐性遗传性代谢疾病，可导致进行性神经认知功能退化。本系统文献回顾旨在汇总和评估已发表的流行病学数据，包括 Sanfilippo 综合征的各种频率衡量标准和地域差异。
系统检索了与 Sanfilippo 综合征流行病学相关的以下数据库中的术语：Medline、Embase、Cochrane 系统评价数据库、学术搜索综合版、护理学和联合健康文献累积索引、以及评论与传播中心。对研究结果进行了定性综合分析。
在最初的检索中发现了 2794 篇出版物，经过标题和摘要筛选后，有 116 篇被认为符合条件。在全文审查后，有 46 篇论文被纳入定性综合分析。本系统文献回顾的结果表明，所有 4 种 MPS III 亚型的终生发病风险在出生时为每 10 万活产儿 0.17-2.35 例，最常见的 MPS IIIA 亚型为每 10 万活产儿 0.00-1.62 例。
所有 4 种 MPS III 亚型均极为罕见，但它们都会对儿童造成严重影响。需要更高质量的流行病学数据，以便为疾病研究和管理有针对性地分配资源。
