Department of ORL, Langenbeckstr. 1 Gebäude 102, 55131, Mainz, Germany.
J Inherit Metab Dis. 2012 Mar;35(2):343-53. doi: 10.1007/s10545-011-9378-5. Epub 2011 Aug 25.
Subjectively reported hearing loss is a common feature of mucopolysaccharidosis II (MPS II, Hunter syndrome). This study provides an epidemiological description of hearing loss and other otolaryngological manifestations reported by patients registered in the Hunter Outcome Survey (HOS), an international registry of patients with MPS II.
Data about ear signs and symptoms were available for 554 of the 605 patients alive at HOS entry. The degree of hearing loss for 162 pure-tone audiograms (PTAs) from 83 patients was classified by independent interpreters using both the age-specific International Institute of Standardization (ISO) 7029 standard and the age-independent World Health Organization (WHO) clinical guidelines. A linear regression analysis using cross-sectional data was conducted to investigate the relationship between hearing loss and age.
The most prevalent otolaryngological manifestations and interventions reported were otitis (either acute otitis media or chronic otitis media [72%]), hearing loss (67%), insertion of ventilation tubes (50%), adenoidectomy (47%), and hearing aids (41%). According to the ISO standard, only one patient out of the 83 with audiogram data in HOS had normal hearing in both ears at all time points. According to the WHO classification, 16% had normal hearing; hearing loss was mild in 24%, moderate in 31%, severe in 22%, and profound in 7%. In the linear regression analysis, the hearing threshold in the cohort increased with age at an estimated rate of approximately 1 dB per year.
Hearing impairment is common in MPS II. Early otolaryngological evaluation and intervention is recommended.
主观报告的听力损失是黏多糖贮积症 II 型（MPS II，亨特综合征）的常见特征。本研究对亨特结果调查（HOS）中登记的 MPS II 患者报告的听力损失和其他耳鼻喉科表现进行了流行病学描述，HOS 是一个国际 MPS II 患者注册处。
在 HOS 入组时，有 605 名存活患者中有 554 名提供了有关耳部体征和症状的数据。83 名患者的 162 个纯音听力图（PTA）的听力损失程度由独立解释者使用年龄特异性国际标准化组织（ISO）7029 标准和年龄无关的世界卫生组织（WHO）临床指南进行分类。使用横断面数据进行线性回归分析，以调查听力损失与年龄之间的关系。
报告的最常见耳鼻喉科表现和干预措施是中耳炎（急性中耳炎或慢性中耳炎[72%]）、听力损失（67%）、通气管插入（50%）、腺样体切除术（47%）和助听器（41%）。根据 ISO 标准，在 HOS 中有听力图数据的 83 名患者中，只有 1 名患者在所有时间点双耳听力均正常。根据 WHO 分类，16%听力正常；16%为轻度听力损失，24%为中度听力损失，31%为重度听力损失，7%为深度听力损失。在线性回归分析中，队列中的听力阈值以每年约 1dB 的速度随年龄增加而增加。
听力障碍在 MPS II 中很常见。建议早期进行耳鼻喉科评估和干预。
