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听力损失是指个体对声音的感知或理解能力出现部分减退或完全丧失，影响全球超15亿人口。听力损失病因多样，主要分为环境因素和遗传因素。由遗传因素引起的听力损失被称为遗传性耳聋，若耳聋伴随其他系统或器官结构或功能异常，则归为综合征型遗传性耳聋，约占所有遗传性耳聋的30%。目前已知的耳聋相关综合征超过400种，临床表现差异显著，可涉及骨骼、肾脏、心脏、视觉系统等。在我国人群中，较为常见的综合征型耳聋包括Waardenburg综合征、Usher综合征、Pendred综合征及Alport综合征。本文梳理了我国人群常见的综合征型遗传性耳聋的研究进展，旨在为耳科学及相关专科医师临床诊疗和遗传咨询提供科学依据和实践指导。
Abstract：Hearing loss(HL) refers to partial reduction or complete loss of the ability to perceive or understand sound, affecting over 1.5 billion people worldwide. Its causes vary and are primarily involve environmental and genetic factors. Hearing loss caused by genetic factors is referred to as hereditary hearing loss. When accompanied by developmental or functional abnormalities in other organs or systems, it is classified as syndromic hereditary hearing loss, which accounts for approximately 30% of hereditary hearing loss cases. To date, more than 400 syndromic hearing loss-related conditions have been reported, with clinical manifestations that can involve various systems, including skeletal, renal, cardiac and visual systems. In the Chinese population, common syndromic hereditary hearing loss conditions include Waardenburg syndrome, Usher syndrome, Pendred syndrome and Alport syndrome. This review summarizes the current research on common syndromic hereditary hearing loss in the Chinese population, aiming to provide guidance for clinical diagnosis, genetic assessment and personalized treatment for specialists in the field.
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基本信息:
中图分类号:R764.43
引用信息:
[1]刘佳,唐芬,谭颂华,等.中国人群常见综合征型遗传性耳聋研究进展[J].中华耳科学杂志,2026,24(04):374-380.
基金信息:
国家自然科学基金青年科学基金项目（82101232）; 广西科技基地和人才专项（桂科AD20297002）; 广西医科大学第一附属医院临床青年科技启明星项目（YYZS2023012）; 广西自然科学基金青年基金项目（2018GXNSFBA050064）; 广西医科大学本科教育教学改革项目（2022XJGY72）;广西医科大学大学生创新创业训练计划项目（X202310598351）
2026-04-09
2026-04-09