Leadley Regina M, Lang Shona, Misso Kate, Bekkering Trudy, Ross Janine, Akiyama Takeyuki, Fietz Michael, Giugliani Roberto, Hendriksz Chris J, Hock Ngu Lock, McGill Jim, Olaye Andrew, Jain Mohit, Kleijnen Jos
Kleijnen Systematic Reviews, Unit 6, Escrick Business Park, Escrick, York, YO19 6FD, UK.
BeSyReBekkering Systematic Reviews, Geel, Belgium.
Orphanet J Rare Dis. 2014 Nov 18;9:173. doi: 10.1186/s13023-014-0173-x.
Morquio A (MPS IVA) is a rare disease characterised by a deficiency of N-acetylgalactosamine-6 sulfatase (GALNS) and presenting with short stature, abnormal gait, cervical spine instability and shortened lifespan.
To prepare a systematic review of the prevalence of Morquio A in multiple countries and suggest recommendations for reporting rare diseases.
Medline, Medline In-Process, Medline Daily Update, Embase, Cochrane Database of Systematic Reviews, Cochrane Central Register of Controlled Trials, Database of Abstracts of Reviews of Effects, Health Technology Assessment Database and PROSPERO were searched from inception to October 2013 to identify relevant information on the epidemiology of Morquio A. Forty Patient Organisation Representatives (POR) and Key Opinion Leaders (KOL) across 24 countries were contacted for data. Observational studies were included and case reports were excluded. Searches were performed without date or language restriction. Two researchers independently screened and extracted data. Quality of study reporting was assessed using a checklist adapted from STROBE (STrengthening the Reporting of OBservational studies in Epidemiology). Point or birth prevalence was stratified according to diagnostic method and discussed narratively.
In total 9,074 records were retrieved from searching and 25 studies were included for data extraction. Twenty out of 40 KOL and POR responded (50%) and 9 provided data (23%). Point prevalence of Morquio A was 1 per 926,000 in Australia, 1 per 1,872,000 in Malaysia and 1 per 599,000 in UK and Morquio (unclassified) was 1 per 323, 000 in Denmark. Birth prevalence of Morquio A (using recommended diagnostic methods) ranged from 1 per 71,000 in UAE to 1 per 500,000 in Japan. All results were compromised by poor study reporting and internal validity.
The review highlighted that there is a misunderstanding of the definitions for prevalence and incidence in the field; that studies were poorly reported (diagnostic methods and patient characteristics) and that no suitable quality assessment tool exists. Overestimation and underestimation of prevalence data can occur. Bespoke reporting guidelines and a quality assessment tool specifically for prevalence of rare diseases are recommended.
莫尔基奥A综合征（黏多糖贮积症IVA型）是一种罕见病，其特征为N - 乙酰半乳糖胺 - 6 - 硫酸酯酶（GALNS）缺乏，表现为身材矮小、步态异常、颈椎不稳以及寿命缩短。
对多个国家莫尔基奥A综合征的患病率进行系统综述，并就罕见病报告提出建议。
检索了自创建至2013年10月的Medline、Medline在研数据库、Medline每日更新数据库、Embase、Cochrane系统评价数据库、Cochrane对照试验中心注册库、效果评价摘要数据库、卫生技术评估数据库和PROSPERO，以识别有关莫尔基奥A综合征流行病学的相关信息。联系了24个国家的40名患者组织代表（POR）和关键意见领袖（KOL）获取数据。纳入观察性研究，排除病例报告。检索无日期或语言限制。两名研究人员独立筛选和提取数据。使用改编自STROBE（加强流行病学观察性研究报告）的清单评估研究报告质量。根据诊断方法对时点患病率或出生患病率进行分层并进行叙述性讨论。
检索共获得9074条记录，纳入25项研究进行数据提取。40名KOL和POR中有20名回复（50%），9名提供了数据（23%）。莫尔基奥A综合征在澳大利亚的时点患病率为每926,000人中有1例，在马来西亚为每1,872,000人中有1例，在英国为每599,000人中有1例，而在丹麦，未分类的莫尔基奥综合征为每323,000人中有1例。莫尔基奥A综合征（使用推荐诊断方法）的出生患病率在阿联酋为每71,
