轻度至中度黏多糖贮积症II型的纵向听力学发现及穿透血脑屏障的酶替代治疗后内耳功能障碍的潜在影响
Longitudinal audiological findings in mild to moderate Mucopolysaccharidosis type II and potential impact of inner ear dysfunction following blood-brain barrier-penetrating enzyme therapy.
文献信息
| PMID | 42837997 |
|---|---|
| 原文 | 在 PubMed 查看原文 ↗ |
| 发表日期 | 2026 |
| 作者 | Ayaka Kise |
| 作者单位 | Department of Otorhinolaryngology, Showa Medical University Fujigaoka Hospital, Yokohama, Japan. |
| 期刊 | Molecular genetics and metabolism |
| SCI 分区 | Q2 |
| IF | 4.1 |
| 研究类型 | 临床研究 · 临床 |
| 所属专科 | 耳科 |
中文摘要
背景： 黏多糖贮积症II型（MPS II）由溶酶体酶艾杜糖醛酸-2-硫酸酯酶缺乏引起。本研究旨在评估MPS II患者的听力学特征及纵向听力变化。
方法： 我们回顾性分析了17例MPS II患者，这些患者在本机构接受了至少两年的纯音测听（PTA）检查且可评估听阈。使用听性脑干反应（ABR）和PTA评估听力。分析听力的纵向变化，以评估听力进展并探索治疗相关效应。
结果： 17例患者（34耳）符合纵向分析的纳入标准。所有患者在初次或随访期间均表现出至少轻度感音神经性听力损失。最终评估时的气导阈值（AC）和骨导阈值（BC）显著高于初次就诊时。AC和BC的平均年变化率分别为1.36 dB HL/年（95% CI，0.96-1.76；P < 0.0001）和1.29 dB HL/年（95% CI，0.82-1.75；P < 0.0001）。随访期间，4例患者（8耳）接受了pabinafusp alfa治疗。在8耳中有5耳（62.5%）观察到AC恶化改善，在8耳中有6耳（75.0%）观察到BC恶化改善。
结论： MPS II患者中AC和BC听力损伤均高度普遍且呈进行性。探索性发现提示pabinafusp alfa治疗后听力恶化可能减轻；然而，样本量小且缺乏统计学显著性，无法得出确定性结论。
英文摘要
BACKGROUND: Mucopolysaccharidosis type II (MPS II) is caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase. This study aimed to evaluate audiological characteristics and longitudinal hearing changes in patients with MPS II.
METHODS: We retrospectively reviewed 17 patients with MPS II whose hearing thresholds could be examined using pure-tone audiometry (PTA) at our institution for at least two years. Hearing was evaluated using auditory brainstem responses (ABR) and PTA. Longitudinal changes in hearing were analyzed to assess hearing progression and explore treatment-related effects.
RESULTS: Seventeen patients (34 ears) met the inclusion criteria for longitudinal analysis. All patients demonstrated at least mild sensorineural hearing loss at initial or during follow-up. Air conduction thresholds (AC) and bone conduction thresholds (BC) were significantly higher at the final assessment than at the initial visit. The mean annual rates of change in AC and BC were 1.36 dB HL/year (95% CI, 0.96-1.76; P < 0.0001) and 1.29 dB HL/year (95% CI, 0.82-1.75; P < 0.0001), respectively. During follow-up, 4 patients (8 ears) received pabinafusp alfa. Improvement in AC deterioration was observed in 5 of 8 ears (62.5%) and improvement in BC deterioration in 6 of 8 ears (75.0%).
CONCLUSIONS: Hearing impairment in both AC and BC was highly prevalent and progressive in patients with MPS II. The exploratory findings suggest a possible attenuation of hearing deterioration after pabinafusp alfa treatment; however, the small sample size and lack of statistical significance preclude definitive conclusions.