Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Mackay Junior College of Medicine, Nursing and Management, Taipei, Taiwan; Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan.
Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Division of Gastroenterology, Department of Internal Medicine, Mackay Memorial Hospital, Taipei, Taiwan.
Mol Genet Metab. 2014 Apr;111(4):533-8. doi: 10.1016/j.ymgme.2014.02.003. Epub 2014 Feb 16.
Patients with mucopolysaccharidoses (MPS) often have hearing loss. However, the characterization of hearing loss by pure-tone audiometry (PTA) in this rare disease population and its relationship to age and treatment is limited.
PTA was performed in 39 patients with MPS (29 males and 10 females; 3 with MPS I, 21 with MPS II, 9 with MPS IVA, and 6 with MPS VI; median age, 11.9 years; age range, 4.4-34.2 years). The degree of hearing loss was classified by the age-independent World Health Organization (WHO) clinical guidelines.
Hearing loss by PTA was present in 85% (33/39) of patients and was categorized as mild (26-40 dB) in 18%, moderate (41-60 dB) in 36%, severe (61-80 dB) in 23%, and profound (≥81dB) in 5%. Among the patients with hearing loss, 33% were classified as mixed type (conductive and sensorineural), 30% as pure conductive type, 27% as pure sensorineural type, and 9% were undefined. The means of the right and left ear hearing thresholds at 2000 and 4000 Hz by air conduction (AC) and at 500, 1000, 2000, and 4000 Hz by bone conduction (BC) were all positively correlated with age (p<0.05). In the 6 patients with MPS II or VI who underwent follow-up PTA after ventilation tube insertion and enzyme replacement therapy for 1.9 to 8.5 years, all showed improvements in AC and BC of the better ear, as well as in the air-bone gap.
Hearing impairment is common in MPS. Early otolaryngological evaluation and intervention are recommended. These findings and the follow-up data can be used to develop quality of care strategies for patients with MPS.
黏多糖贮积症（MPS）患者常伴有听力损失。然而，由于该罕见病患者人群数量较少，目前对纯音测听（PTA）的听力损失特征及其与年龄和治疗的关系的了解还很有限。
对 39 例 MPS 患者（29 名男性，10 名女性；3 例 MPS I，21 例 MPS II，9 例 MPS IVA，6 例 MPS VI；中位年龄 11.9 岁；年龄范围 4.4-34.2 岁）进行 PTA。听力损失程度按照与年龄无关的世界卫生组织（WHO）临床指南进行分类。
39 例患者中有 85%（33/39）存在听力损失，其中轻度（26-40dB）占 18%，中度（41-60dB）占 36%，重度（61-80dB）占 23%，极重度（≥81dB）占 5%。在有听力损失的患者中，33%为混合性（传导性和感音神经性），30%为单纯传导性，27%为单纯感音神经性，9%未分类。右侧和左侧耳的 2000Hz 和 4000Hz 的空气传导（AC）和 500Hz、1000Hz、2000Hz 和 4000Hz 的骨传导（BC）阈值均值均与年龄呈正相关（p<0.05）。在 6 例接受通气管插入术和酶替代治疗 1.9-8.5 年后接受随访 PTA 的 MPS II 或 MPS VI 患者中，所有患者的较好耳的 AC 和 BC 以及气骨导差均有所改善。
MPS 患者听力障碍很常见。建议早期进行耳鼻喉科评估和干预。这些发现和随访数据可用于制定 MPS 患者的护理质量策略。
