Rodrigues Jorge, Azevedo Olga, Sousa Nuno, Cunha Damião, Mexedo Alexandre, Fonseca Rui
Department of Otorhinolaryngology, Reference Centre on Lysosomal Storage Disorders, Hospital Senhora da Oliveira, Guimarães, Portugal; Department of Anatomy, Faculty of Medicine, University of Porto, Porto, Portugal.
Department of Cardiology, Reference Centre on Lysosomal Storage Disorders, Hospital Senhora da Oliveira, Guimarães, Portugal; Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal; ICVS/3Bs PT Government Associate Laboratory, Braga, Guimarães, Portugal.
Eur J Med Genet. 2018 Jun;61(6):341-347. doi: 10.1016/j.ejmg.2018.01.006. Epub 2018 Jan 4.
Fabry disease (FD) is a lysosomal storage disorder (LSD) that involves the cochleovestibular system. Tinnitus and progressive sensorineural hearing loss are frequent complains. A stabilization of hearing function has been reported with enzyme replacement therapy (ERT). This study aims to characterize the inner ear involvement, identify factors associated to hearing loss and evaluate the effect of ERT on the hearing function of FD patients.
We reviewed the clinical records of patients with confirmed diagnosis of FD followed in a Reference Centre on LSD in the North of Portugal.
We included a total of 122 patients with a mean age of 47.1 ± 17.6 years and 48.3% males. Hearing loss was reported by 26.2% of the patients and 23.0% mentioned tinnitus. Pure tone audiometry revealed sensorineural hearing loss in 36.9% of the cases. FD patients presented worse age-adjusted hearing thresholds in all analysed frequencies compared to the normal population (p = .001). Patients with hearing loss presented a significantly higher value of microalbuminuria (p = .001) and a higher frequency of acroparesthesias (p = .032). Patients presented a comparable hearing level one year after starting ERT (p = .384).
In FD, hearing loss is common and age-matched hearing thresholds by frequency are worse than in the general population. Hearing loss was associated to the presence of acroparesthesias and higher values of microalbuminuria. Hearing loss stabilized in patients under ERT. A careful cochleo-vestibular evaluation should be part of the clinical assessment of FD.
法布里病（FD）是一种累及耳蜗前庭系统的溶酶体贮积症（LSD）。耳鸣和进行性感音神经性听力损失是常见症状。有报道称酶替代疗法（ERT）可使听力功能稳定。本研究旨在描述内耳受累情况，确定与听力损失相关的因素，并评估ERT对FD患者听力功能的影响。
我们回顾了在葡萄牙北部一家LSD参考中心随访的确诊FD患者的临床记录。
我们共纳入122例患者，平均年龄47.1±17.6岁，男性占48.3%。26.2%的患者报告有听力损失，23.0%的患者提及耳鸣。纯音听力测定显示36.9%的病例有感音神经性听力损失。与正常人群相比，FD患者在所有分析频率下的年龄校正听力阈值更差（p = 0.001）。有听力损失的患者微量白蛋白尿值显著更高（p = 0.001），肢端感觉异常的发生率更高（p = 0.032）。开始ERT一年后，患者的听力水平相当（p = 0.384）。
在FD中，听力损失很常见，且按频率匹配年龄的听力阈值比一般人群更差。听力损失与肢端感觉异常的存在和更高的微量白蛋白尿值有关。接受ERT治疗的患者听力损失稳定。仔细的耳蜗前庭评估应成为FD临床评估的一部分。
