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外皮皮质质变形综合征的患病率

Clayton Butcher1, Becky M Abbott2, Dorothy Grange3

  • 1Department of Medicine, University of Missouri School of Medicine, Columbia, Missouri, USA.

American journal of medical genetics. Part A
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概括

这项研究使用电子健康记录确定了几种外皮性发育不良 (ED) 综合征的患病率. 发现缺水性外皮性形是最常见的ED,患病率为每10万个人中2.99.

关键词:
安基洛布莱法龙-外皮缺陷-口唇/口腔裂带有免疫缺陷的外皮性形.皮膜外皮的生长障碍裂口唇/口腔焦点皮肤低成形症焦点皮肤低成形症缺水性外皮性皮质发育不良症.无 incontinentia 颜料 这些颜料.

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科学领域:

  • 遗传学和发育生物学
  • 流行病学 流行病学
  • 罕见疾病研究研究.

背景情况:

  • 皮内膜异位症 (EDs) 是一组罕见的遗传疾病,影响皮内膜衍生物,如头发,牙和指甲.
  • 有49个已知的ED,但流行数据很少,这阻碍了研究和对受影响家庭的支持.
  • 基因组学的进步凸显了对罕见疾病更好地理解和研究的需要.

研究的目的:

  • 为了确定常见的外皮皮质变形综合征的周期流行率.
  • 评估使用大型电子健康记录数据库用于罕见疾病研究的可行性.

主要方法:

  • 通过专家的共识,为ED综合征制定了临床定义.
  • 使用ICD-9和ICD-10代码进行病例识别.
  • 查询了包含64,523,460个医疗记录的Oracle真实世界数据库 (2023年1月版本).

主要成果:

  • 计算了七种ED障碍的周期流行率.
  • 缺水性外皮皮质变形症:每10万人的2.99.
  • 其他EDs范围从0.10到0.88每10万,包括Incontinentia Pigmenti (0.88) 和Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate (0.61) 在内.

结论:

  • 确定了几个ED综合征的估计周期流行率.
  • 证明了大型多中心电子健康记录数据库在罕见疾病研究中的实用性.
  • 这种方法为未来对ED的流行病学研究提供了基础.