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[与感音神经性听力损失相关的遗传性内分泌和代谢疾病的研究进展]

[Research progress on hereditary endocrine and metabolic diseases associated with sensorineural hearing loss].

作者信息

Chen Fang, Zhang Qinying, Zhang Qiujing, Wang Qiuju

机构信息

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

Department of Audiology and Vestibular Medicine,Institute of Otolaryngology,Senior Department of Otolaryngology Head and Neck Surgery,the First Medical Center of Chinese PLA General Hospital,National Clinical Research Center for Otolaryngologic Diseases.

出版信息

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2024 Jan;38(1):63-69. doi: 10.13201/j.issn.2096-7993.2024.01.010.

Abstract

Hereditary endocrine and metabolic diseases , caused by genetic factors, exhibit complex and diverse symptoms, including the possibility of concurrent sensorineural deafness. Currently, there is a limited clinical understanding of hereditary endocrine and metabolic diseases that manifest with deafness, the pathogenesis remains unclear,and there is a lack of effective diagnostic and treatment methods. This article summarizes the research progress of hereditary endocrine and metabolic diseases complicated with deafness from the pathogenesis, clinical phenotype, diagnosis and treatment. Understanding the current research progress and integrating genetic analysis into clinical practice are crucial for accurate diagnosis and treatment, evaluating clinical efficacy, and providing effective genetic counseling for these diseases.

摘要

由遗传因素引起的遗传性内分泌和代谢疾病表现出复杂多样的症状,包括并发感音神经性耳聋的可能性。目前,对于伴有耳聋表现的遗传性内分泌和代谢疾病,临床认识有限,发病机制尚不清楚,且缺乏有效的诊断和治疗方法。本文从发病机制、临床表型、诊断和治疗等方面总结了遗传性内分泌和代谢疾病合并耳聋的研究进展。了解当前的研究进展并将基因分析整合到临床实践中,对于这些疾病的准确诊断和治疗、评估临床疗效以及提供有效的遗传咨询至关重要。

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