合并感音神经性耳聋的遗传性内分泌代谢病研究进展
Research progress on hereditary endocrine and metabolic diseases associated with sensorineural hearing loss
陈芳 1张勤颖 1张秋静 2王秋菊2
作者信息
- 1. 解放军联勤保障部队第985医院中医内分泌科(太原,030001)
- 2. 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
- 折叠
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.
Abstract
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.
关键词
遗传代谢病/内分泌疾病/耳聋/基因Key words
inherited metabolic disease/endocrinology disease/hearing impairment/gene引用本文复制引用
基金项目
国家重点研发计划(2023YFF1203503)
国家重点研发计划(2023YFC2508400)
国家自然科学基金(82371136)
出版年
2024
NETL
NSTL
万方数据