Keilmann A
Department for Communication Disorders, University of Mainz, Mainz, Germany.
Acta Paediatr Suppl. 2003 Dec;92(443):31-2; discussion 27. doi: 10.1111/j.1651-2227.2003.tb00218.x.
The prevalence of hearing loss in patients with Fabry disease is still uncertain. This paper examines hearing loss in a group of young patients with Fabry disease.
A clinical ear nose and throat examination, pure-tone air and bone conduction audiometry, speech audiometry and middle ear testing (tympanometry and acoustic reflex testing) were carried out in four girls and two boys with Fabry disease (age, 7-17 years), receiving enzyme replacement therapy (ERT).
None of the patients complained of a hearing disorder or suffered from hearing loss. Three female patients reported tinnitus; however, this was not reported as being a problem. One boy reported tinnitus for the first time during 6 months of ERT.
Based on this small sample of patients, it appears that the hearing disorders associated with Fabry disease develop mainly in adulthood. Tinnitus may be an earlier symptom than previously thought in Fabry disease.
法布里病患者听力损失的患病率仍不确定。本文研究一组年轻法布里病患者的听力损失情况。
对4名女孩和2名男孩（年龄7 - 17岁）进行临床耳鼻喉检查、纯音气导和骨导听力测定、言语听力测定及中耳测试（鼓室图和声反射测试），这些患者患有法布里病且正在接受酶替代疗法（ERT）。
所有患者均未主诉听力障碍或患有听力损失。3名女性患者报告有耳鸣；然而，她们并未将其视为问题。1名男孩在接受ERT的6个月期间首次报告耳鸣。
基于这一小部分患者样本，似乎与法布里病相关的听力障碍主要在成年期出现。耳鸣可能是法布里病比之前认为的更早出现的症状。
