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[与感官神经神经听力损失相关的遗传性内分泌和代谢疾病的研究进展]

Fang Chen¹, Qinying Zhang¹, Qiujing Zhang²

¹Traditional Chinese Medicine Endocrinology Department of the 985th Hospital of the Joint Logistics Support Force of the People's Liberation Army，Taiyuan，030001，China.

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery

|February 1, 2024

概括

遗传性内分泌和代谢疾病可能导致神经感官聋. 本综述涵盖了它们的发病,临床特征,诊断和治疗,强调基因分析以获得更好的患者结果.

科学领域:

遗传学和分子生物学
内分泌学在内分泌学.
耳鼻喉科耳鼻喉科耳鼻喉科

背景情况:

遗传性内分泌和代谢疾病是具有多种症状的遗传性疾病.
感官神经聋可以与这些情况同时发生.
对于这些综合性疾病的病原和有效治疗方法的了解有限.

研究的目的:

审查与聋相关的遗传性内分泌和代谢疾病的当前研究.
整合有关病原,临床表现,诊断和治疗的信息.

主要方法:

相关科学文章的文献综述.
对疾病机制和临床表现的研究成果的综合.
对诊断和治疗策略的分析.

主要成果:

总结了理解遗传代谢/内分泌疾病和聋之间的联系的进展.
突出了临床表型和潜在遗传因素的复杂性.
识别当前诊断和治疗方法中的差距.

结论:

将基因分析纳入临床实践对于准确的诊断和治疗至关重要.
需要进一步的研究来阐明病原体和开发向疗法.
有效的遗传咨询对于受影响的家庭至关重要.

关键词:

内分泌学疾病疾病基因基因基因基因听力损伤听力损伤遗传代谢性疾病遗传性代谢性疾病

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