中华耳科学杂志2026，Vol.24Issue(8)：721-732,12.DOI:10.3969/j.issn.1672-2922.2026.08.001
大前庭水管综合征诊疗临床实践指南
Clinical practice guidelines for the diagnosis and treatment of large vestibular aqueduct syndrome
耳鼻喉疾病国家临床医学研究中心 1中华医学会医学遗传学分会 1北京医学会医学遗传学分会 1杨仕明 2王秋菊 3戴朴4
作者信息
- 2. 耳鼻喉疾病国家临床医学研究中心,北京100048
- 3. 解放军总医院第六医学中心耳鼻咽喉头颈外科医学部,北京 100048
- 4. 解放军总医院第一医学中心耳鼻咽喉头颈外科,北京 100853
- 折叠
摘要
Abstract
Enlarged vestibular aqueduct syndrome(EVAS)is a common autosomal recessive hereditary condition characterized by congenital inner ear malformations and sensorineural hearing loss,closely associated with SLC26A4 gene defects.To standardize the clinical diagnosis and treatment of EVAS,the National Clinical Research Center for Otolaryngologic Diseases invited multidisciplinary experts to develop these guidelines.Following traditional methodology for developing clinical practice guidelines,the expert panel systematically reviewed international and domestic evidence,with special attention to clinical data from the Chinese population,and formulated 34 recommendations.The recommendations cover imaging diagnosis,genetic testing,audiological and vestibular assessment,pharmacotherapy,hearing aid fitting,cochlear implantation,auditory rehabilitation,genetic counseling,and prevention of birth defect progressive hearing loss.关键词
大前庭水管综合征/遗传性耳聋/SLC26A4基因/诊断/预防/治疗Key words
enlarged vestibular aqueduct syndrome/hereditary deafness/SLC26A4 gene/diagnosis/prevention/treatment引用本文复制引用
耳鼻喉疾病国家临床医学研究中心,中华医学会医学遗传学分会,北京医学会医学遗传学分会,杨仕明,王秋菊,戴朴..大前庭水管综合征诊疗临床实践指南[J].中华耳科学杂志,2026,24(8):721-732,12.
