Limberger A, Beck M, Delgado-Sanchez S, Keilmann A
Klinik für HNO und Kommunikationsstörungen, Universitätsklinik Mainz, Mainz.
HNO. 2007 Mar;55(3):185-9. doi: 10.1007/s00106-006-1454-z.
Fabry disease is an X-linked lysosomal storage disease involving deficient activity of alpha-galactosidase A, which leads initially to pain, and later to renal insufficiency, cardiomyopathy and stroke. Until now few details are available on hearing impairment in patients with Fabry disease, and especially few relating to female patients.
We examined 43 female and 29 male patients. In this study we looked into the question of whether and to what extent patients of both genders are affected by hearing impairment.
Hearing loss is characteristic being more severe at high frequencies frequencies. Overall, 22 female and 15 male patients were found to have suffered a hearing loss. Patients with severe symptoms of Fabry disease usually demonstrate more prominent hearing losses.
Both men and women with Fabry disease are affected by hearing impairment. It seems that the hearing loss is less marked in female than in male patients. Children with Fabry disease complain of tinnitus more frequently than other children and quite early in the course of the disease.
法布里病是一种X连锁溶酶体贮积病，由α-半乳糖苷酶A活性缺乏引起，最初导致疼痛，随后发展为肾功能不全、心肌病和中风。到目前为止，关于法布里病患者听力障碍的细节很少，尤其是女性患者。
我们检查了43名女性和29名男性患者。在本研究中，我们探讨了男女患者是否以及在何种程度上受到听力障碍影响的问题。
听力损失具有高频更严重的特征。总体而言，发现22名女性和15名男性患者有听力损失。法布里病症状严重的患者通常表现出更明显的听力损失。
法布里病男性和女性患者均受听力障碍影响。女性患者的听力损失似乎比男性患者轻。法布里病患儿比其他儿童更频繁地抱怨耳鸣，且在疾病过程中较早出现。
