嗅觉功能障碍在初级状腺功能障碍中
Zainab Farzal1, Kelli M Sullivan2, Maimoona A Zariwala2,3
1Department of Otolaryngology-Head and Neck Surgery University of Texas Southwestern Medical Center Dallas Texas USA.
OTO open
|February 3, 2025
概括
患有原发性纤毛功能障碍 (PCD) 的人经历了显著的嗅觉功能障碍,随着年龄的增长,嗅觉识别能力下降. 这项研究突出显示,与对照组相比,PCD患者的嗅觉丧失的患病率和程度更高.
科学领域:
- 耳鼻喉科 耳鼻喉科 耳鼻喉科
- 遗传学 是一个遗传学.
- 肺部病理学 肺部病理学
背景情况:
- 原发性纤毛功能障碍 (PCD) 是一种影响纤毛功能的遗传疾病.
- 嗅觉功能障碍在PCD中经常被报告,但记录不够丰富.
- 了解PCD中的嗅觉缺陷对于全面的患者护理至关重要.
研究的目的:
- 描述PCD患者嗅觉功能障碍的流行程度和严重程度.
- 为了将PCD患者的嗅觉功能与年龄和性别匹配的对照进行比较.
- 调查特定PCD基因与嗅觉障碍之间的潜在关联.
主要方法:
- 在高等推中心进行了前性队列研究.
- 宾夕法尼亚大学的气味识别测试 (UPSIT) 对29名患有PCD的人进行了测试.
- PCD参与者与2170名年龄和性别匹配的对照人群进行了比较,分为三个年龄组.
主要成果:
- 只有27.6%的PCD患者的嗅觉识别得分正常 (normmosmia).
- 所有年龄组的PCD患者的UPSIT分数明显低于对照组 (P < .0001).
- 在PCD患者中,嗅觉功能障碍随着年龄的增长而恶化,从轻度到重度的低血.
结论:
- 与对照人群相比,患有PCD的个体表现出明显更高的嗅觉功能障碍的流行和程度.
- 这项研究是首次报告PCD患者的嗅觉功能与年龄相关的下降.
- 与内侧肌膜臂/微管管失调相关的CCDC39基因与更严重的嗅觉功能障碍有关.
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