听力障碍在X相关的低酸血症:一个审查
Seongeun Oh1, Jessica L Sandy2,3, Craig F Munns4,5
1Melbourne Medical School, University of Melbourne, Parkville, VIC 3010, Australia.
JBMR plus
|December 25, 2025
概括
听力障碍,特别是成人开始的感觉神经听力损失,在X链接低血症 (XLH) 中很常见. 发病因子尚不清楚,但骨加厚和内淋巴体水滴都与此有关. 这就是Burosumab.
科学领域:
- 遗传学和罕见疾病
- 耳鼻喉科 耳鼻喉科 耳鼻喉科
- 内分泌学 在内分泌学.
背景情况:
- 与X相关的低酸血症 (XLH) 是一种罕见的遗传性疾病,其特征是酸盐浪费和骨异常.
- 听力障碍是XLH的一个公认的非骨性并发症,但其具体特征和潜在机制仍然不太清楚.
- 现有的文献缺乏关于XLH患者听力损失的患病率,病因学,病理学和自然史的全面数据.
研究的目的:
- 系统地审查和综合当前关于X链接低血症听力损伤的文献.
- 阐明与XLH相关的听力损失的患病率,类型和进展.
- 确定潜在的潜在原因,并指导 XLH 听力障碍的临床管理策略.
主要方法:
- 从2000年1月到2024年7月,在四个主要数据库 (PubMed/Medline,EMBASE,Web of Science,Cochrane Library) 进行了系统的文献搜索.
- 关键词包括"X链接的低酸性"和"听力损失"及其同义词.
- 审查了符合纳入标准的12项人类和动物研究,分析了有关听力损失特征和XLH潜在贡献因素的数据.
主要成果:
- 听力损失,影响13%-76%的成年人XLH,主要是神经传感和成人发病,影响各种频率和潜在的波动.
- 潜在的促成因素包括骨质硬化,骨厚化,听觉骨骨质损伤和内淋巴体水 (ELH).
- 动物模型 (Hyp和Gy小鼠) 呈现导电性和感觉神经听力损失,高听力脑干响应 (ABR) 值和ELH.
结论:
- 在X相关的低度和听力损失之间存在明显的关联,主要是成人发病的感觉神经神经类型.
- 与XLH相关的听力损失的发病是多因素的,涉及骨异常和内淋巴体水.
- 目前的证据不支持传统疗法或布罗苏马布在预防或减轻XLH相关听力损伤方面的有效性.
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