摘要
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。
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.
作者
陈芳
张勤颖
张秋静
王秋菊
CHEN Fang;ZHANG Qinying;ZHANG Qiujing;WANG Qiuju(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)
出处
《临床耳鼻咽喉头颈外科杂志》
CAS
CSCD
北大核心
2024年第1期63-69,共7页
Journal of Clinical Otorhinolaryngology Head And Neck Surgery
基金
国家重点研发计划(No:2023YFF1203503、2023YFC2508400)
国家自然科学基金(No:82371136)。
关键词
遗传代谢病
内分泌疾病
耳聋
基因
inherited metabolic disease
endocrinology disease
hearing impairment
gene