首页|合并感音神经性耳聋的遗传性内分泌代谢病研究进展

合并感音神经性耳聋的遗传性内分泌代谢病研究进展

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遗传性内分泌代谢疾病是遗传因素所致的内分泌代谢紊乱疾病,患者症状表现复杂多样,可合并感音神经性耳聋.目前临床上对合并感音神经性耳聋的遗传性内分泌代谢疾病认识十分有限,发病机制仍不明确,尚缺乏有效的诊治方法.本文从发病机制、临床表型、诊断和治疗等方面,对合并感音神经性耳聋的遗传性内分泌代谢疾病研究进展进行总结,并结合临床特征和相关基因分析,为其临床诊治、疗效评估及遗传咨询提供指导.
Research progress on hereditary endocrine and metabolic diseases associated with sensorineural hearing loss
Hereditary endocrine and metabolic diseases,caused by genetic factors,exhibit complex and di-verse symptoms,including the possibility of concurrent sensorineural deafness.Currently,there is a limited clini-cal understanding of hereditary endocrine and metabolic diseases that manifest with deafness,the pathogenesis re-mains unclear,and there is a lack of effective diagnostic and treatment methods.This article summarizes the re-search 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 pro-viding effective genetic counseling for these diseases.

inherited metabolic diseaseendocrinology diseasehearing impairmentgene

陈芳、张勤颖、张秋静、王秋菊

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解放军联勤保障部队第985医院中医内分泌科(太原,030001)

解放军总医院第一医学中心 耳鼻咽喉头颈外科医学部 国家耳鼻咽喉疾病临床医学研究中心

遗传代谢病 内分泌疾病 耳聋 基因

国家重点研发计划国家重点研发计划国家自然科学基金

2023YFF12035032023YFC250840082371136

2024

临床耳鼻咽喉头颈外科杂志
华中科技大学同济医学院附属协和医院

临床耳鼻咽喉头颈外科杂志

CSTPCD北大核心
影响因子:0.831
ISSN:1001-1781
年,卷(期):2024.38(1)
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