儿童双侧感音神经性听力损失：病因及长期进展
Bilateral sensorineural hearing loss in children: causes and long-term progression.
文献信息
| PMID | 42828713 |
|---|---|
| 原文 | 在 PubMed 查看原文 ↗ |
| 发表日期 | 2026 |
| 作者 | Andra Lazar |
| 作者单位 | Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden. andra.lazar@ki.se. |
| 期刊 | European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery |
| SCI 分区 | Q1 |
| IF | 2.3 |
| 研究类型 | 临床研究 · 临床 |
| 所属专科 | 耳科 |
中文摘要
目的： 需要助听设备的儿童期听力损失（CHL）需要持续监测听力损失（HL）进展并调整干预措施。尽管病因学检查取得了进展，但在理解CHL的因果决定因素和进展模式方面仍存在重要空白。本研究旨在分析病因学检查的患病率和检出率，并确定与年龄较大儿童HL进展相关的病因。
方法： 这项描述性回顾性研究纳入了194名出生于2010年1月1日至2015年12月31日期间的中度至重度感音神经性HL儿童的数据，数据检索自斯德哥尔摩县三级转诊听力学中心的区域登记系统。通过区域公共卫生记录系统收集了医疗信息和纯音平均值。
结果： 146名儿童（75%）接受了病因检查，其中75名（51.4%）有阳性发现。发现的病因中遗传性52例（69%），如GJB2；先天性巨细胞病毒感染（cCMV）10例（13%）；内耳畸形33例（33%）。16%的儿童观察到HL进展，最常见的确定病因是扩大的前庭导水管综合征（EVA），其次是cCMV。
结论： 当进行基因检测时，无论是作为一线检查还是在影像学检查之后，诊断检出率最高。在该研究组中，报告HL进展的儿童较少，其中EVA和cCMV是最普遍的病因。全面或靶向遗传学仍然是一种有效的诊断方法，可在临床强化时单独使用，或与影像学和感染学检查联合使用。
英文摘要
PURPOSE: Childhood hearing loss (CHL) in need of assisting listening devices require a constant surveillance for hearing loss (HL) progression and adjustment of interventions. Despite advances in aetiological investigations, there are still important gaps in understanding causal determinants and progression patterns of CHL. The aim of this study was to analyze the prevalence and yield of aetiological investigations, and to identify causes associated with HL progression in older children.
METHODS: This descriptive retrospective study included data from 194 children with moderate-profound senorineural HL born between January 1st 2010 and December 31st 2015, retrieved from the regional registry at the tertiary referral audiological centre in Stockholm County. Medical information and pure tone averages were gathered through the regional public health record system.
RESULTS: 146 children (75%) underwent causal investigation, with a positive finding in 75 (51,4%) of them. The discovered aetiologies were genetic in 52 (69%) such as GJB2, congenital cytomegalovirus infection (cCMV) in 10 (13%) and inner ear malformations in 33 (33%). HL progression was observed in 16% of the children and the most common identified cause was enlarged vestibular aqueduct syndrome (EVA), followed by cCMV.
CONCLUSION: The highest diagnostic yield was observed when genetic testing was performed, either as a first-line investigation or following imaging. Few children reported a progression of HL in this study group in which EVA and cCMV were the most prevalent causes. Comprehensive or targeted genetics remains as an effective diagnostic method, in isolation when clinically strengthened or in combination with imaging and infectious investigations.