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庞贝病的诊断方法和流行病学估计的全球变化:范围审查的调查结果

Roberto Giugliani¹, Faryn Solomon², Hani Kushlaf³

¹Department of Genetics, UFRGS, Medical Genetics Service, HCPA, INAGEMP, Dasa Genomics, and Casa dos Raros, Porto Alegre, Brazil.

Orphanet journal of rare diseases

|May 6, 2025

概括

庞培病的流行率在全球范围内有所不同,对婴儿发病 (IOPD) 和晚发病 (LOPD) 形式的估计不同. 标准化查和诊断方法对于准确的庞培病流行病学至关重要.

科学领域:

遗传学和罕见疾病.
流行病学流行病学
生物化学生物化学

背景情况:

庞培病是由GAA基因变异引起的,导致 lysosomal acid α-glucosidase (GAA) 缺乏症.
庞培病的全球流行率估计不清楚,并且因地区而异.
这项研究评估了全球庞培病流行病学和流行率差异的原因.

研究的目的:

为了评估庞培病的全球流行病学.
为了确定全球不同患病率估计的潜在原因.
评估婴儿发病佩病 (IOPD) 和晚发病佩病 (LOPD) 患病率的变化.

主要方法:

在PubMed和Embase数据库中进行全面的文献搜索 (2023年7月 - 2024年6月).
纳入标准:可靠的流行病学方法,明确的疾病定义,在过去5年内发表.
从新生儿查 (NBS) 计划和基于人口的研究中分析数据.

主要成果:

对IOPD的患病率估计在297,387分之一 (日本) 到62,186分之一 (台湾) 之间.
在法国,LOPD的患病率从82,914例中的1例 (台湾) 到17,133例中的1例 (宾夕法尼亚),随着时间的推移,诊断的增加.
在非洲裔人群中发现了更高的庞培病患病率;在亚洲人群中更频繁的伪缺陷等位基因.

结论:

庞培病的患病率对于IOPD和LOPD不同,并且在地理上有所不同,可能受种族和种族的影响.
强调需要标准化查,诊断和遗传检测协议.
强调需要对IOPD和LOPD进行统一的疾病分类.

关键词:

酸马尔塔酶缺乏症是什么流行病学流行病学糖原储存疾病II类型庞贝病是庞贝病的一种疾病.流行程度流行程度

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