BioMarin Pharmaceutical, Inc, Novato, California, USA.
Pallas Health Research and Consultancy, Rotterdam, the Netherlands.
Am J Med Genet A. 2020 Oct;182(10):2297-2316. doi: 10.1002/ajmg.a.61787. Epub 2020 Aug 17.
Achondroplasia is a genetic disorder that results in disproportionate short stature. The true prevalence of achondroplasia is unknown as estimates vary widely. This systematic literature review and meta-analysis was conducted to better estimate worldwide achondroplasia birth prevalence. PubMed, Embase, Scielo, and Google Scholar were searched, complemented by manual searching, for peer-reviewed articles published between 1950 and 2019. Eligible articles were identified by two independent researchers using predefined selection criteria. Birth prevalence estimates were extracted for analysis, and the quality of evidence was assessed. A meta-analysis using a quality effects approach based on the inverse variance fixed effect model was conducted. The search identified 955 unique articles, of which 52 were eligible and included. Based on the meta-analysis, the worldwide birth prevalence of achondroplasia was estimated to be 4.6 per 100,000. Substantial regional variation was observed with a considerably higher birth prevalence reported in North Africa and the Middle East compared to other regions, particularly Europe and the Americas. Higher birth prevalence was also reported in specialized care settings. Significant heterogeneity (Higgins I of 84.3) was present and some indication of publication bias was detected, based on visual asymmetry of the Doi plot with a Furuya-Kanamori index of 2.73. Analysis of pooled data from the current literature yields a worldwide achondroplasia birth prevalence of approximately 4.6 per 100,000, with considerable regional variation. Careful interpretation of these findings is advised as included studies are of broadly varying methodological quality.
软骨发育不全症是一种遗传性疾病，导致不成比例的身材矮小。由于估计值差异很大，因此软骨发育不全症的真实患病率尚不清楚。进行了这项系统的文献回顾和荟萃分析，以便更好地估计全球软骨发育不全症的出生患病率。在 1950 年至 2019 年期间，通过 PubMed、Embase、Scielo 和 Google Scholar 搜索同行评审文章，并通过手动搜索进行补充，以符合预定的选择标准。两名独立研究人员使用预定义的选择标准来确定合格的文章。提取出生患病率估计值进行分析，并评估证据质量。使用基于逆方差固定效应模型的质量效应方法进行荟萃分析。搜索确定了 955 篇独特的文章，其中 52 篇符合条件并包含在内。根据荟萃分析，全球软骨发育不全症的出生患病率估计为每 10 万人中有 4.6 人。观察到明显的区域差异，与其他地区（特别是欧洲和美洲）相比，北非和中东地区报告的出生患病率明显较高。在专门的护理环境中也报告了较高的出生患病率。存在明显的异质性（Higgins I 为 84.3），并且根据 Doi 图的视觉不对称性和 Furuya-Kanamori 指数为 2.73，检测到一些出版偏倚的迹象。对当前文献中汇总数据的分析得出全球软骨发育不全症的出生患病率约为每 10 万人中有 4.6 人，存在相当大的区域差异。由于所包括的研究具有广泛不同的方法学质量，因此建议对这些发现进行仔细解释。
