PDF(Pubmed)
Abstract：
Hearing loss is frequently associated with Gaucher disease (GD). Gaucher cells are enlarged reticuloendothelial cells containing glucocerebroside in the lysosomes due to deficiency of the glucocerebrosidase. Gaucheromas consist of accumulated Gaucher cells. Gaucher cells accumulate in variable tissues including the liver, spleen, bone marrow, and the middle ear and the mastoid causing conductive hearing loss. Neurons and astrocytes in the central nervous system are affected in neuronopathic GD leading to sensorineural hearing loss. Gaucheromas can develop even in patients treated with enzyme replacement therapy (ERT). We report a 19-year-old female patient with GD type 3 who developed profound bilateral hearing loss associated with intracranial Gaucheroma. Combination therapy of ERT with imiglucerase and substrate reduction therapy (SRT) with eliglustat significantly decreased the size of Gaucher cells and cleared the characteristic microtubular structures in the lysosomes in Gaucher cells. Early implementation of SRT may prevent at least conductive hearing impairment in GD although it may not prevent sensorineural hearing loss due to inner hair cell dysfunction which is also known to be associated with neuronopathic GD.
摘要：
听力损失通常与戈谢病（GD）有关。Gaucher细胞是由于葡糖脑苷脂酶的缺乏而在溶酶体中含有葡糖脑苷脂的扩大的网状内皮细胞。Gaucheroma由积累的Gaucher细胞组成。Gaucher细胞在包括肝脏在内的可变组织中积累，脾,脾骨髓,中耳和乳突导致传导性听力损失。中枢神经系统中的神经元和星形胶质细胞在神经特发性GD中受到影响，导致感觉神经性听力损失。即使在接受酶替代疗法（ERT）治疗的患者中，Gaucheroma也会发展。我们报告了一名19岁的GD3型女性患者，该患者患有与颅内Gaucheroma相关的严重双侧听力损失。ERT与imiglucerase的联合疗法和底物减少疗法（SRT）与eliglustat的联合疗法显着降低了Gaucher细胞的大小，并清除了Gaucher细胞中溶酶体中的特征性微管结构。SRT的早期实施可以至少预防GD的传导性听力损害，尽管它可能无法预防由于内部毛细胞功能障碍而引起的感觉神经性听力损失，这也与神经特发性GD有关。
