估计的初级毛动力障碍发病率:一个范围审查审查
Wallace B Wee1,2,3,4, Dvir Gatt1, Elias Seidl1,5
1Division of Respiratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
ERJ open research
|August 6, 2024
概括
初级状动力障碍 (PCD) 比以前认为的更为常见,全球患病率约为每10万人中13.2人. 这一发现突显了这种罕见的遗传性疾病患者的潜在未满足的健康需求.
科学领域:
- 遗传学 是一个遗传学.
- 流行病学 流行病学
- 罕见疾病 罕见疾病
背景情况:
- 初级状动力障碍 (PCD) 是一种罕见的,多系统的遗传疾病,影响着运动.
- 在囊性纤维化之后,它是第二常见的继承性呼吸道疾病,但在全球范围内仍未得到充分承认.
- 由于诊断挑战和有限的数据,目前的患病率估计差异很大 (1:10,0001:20,000).
研究的目的:
- 对PCD流行率的现有文献进行范围审查.
- 确定最准确的PCD全球流行率估计.
- 确定PCD患者潜在的未得到满足的医疗服务需求.
主要方法:
- 按照PRISMA-ScR指南进行了系统范围审查.
- 包括使用队列,临床或基因组数据估计PCD患病率的研究.
- 不包括案例报告,评论,会议摘要和非英语文章.
主要成果:
- 八项研究符合最初3484份摘要的纳入标准.
- 七项区域流行病学研究报告的患病率在每10万人中从1到44.1不等.
- 一项使用基因组数据的全球研究估计PCD患病率约为每10万人中13.2.
结论:
- 基于人口的基因组方法表明,PCD的患病率明显高于此前估计的.
- 这些发现强调了PCD人口中可能存在未得到满足的医疗服务需求.
- 准确的全球流行数据对于改善PCD患者的识别和护理至关重要.
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