Sensorineural hearing loss associated with Byler disease
Sensorineural hearing loss associated with Byler disease
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DOI：
10.1620/tjem.187.83
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发表时间：
1999-01-01
影响因子：
2.2
通讯作者：
Takasaka, T
中科院分区：
文献类型：
--
作者：
Oshima, T;Ikeda, K;Takasaka, T
进行性家族性肝内胆汁淤积症，有时被称为拜勒病，是一种致命的肝脏疾病，其遗传为常染色体隐性遗传。之前有报道称这种疾病与感音神经性听力损失之间偶尔存在关联，但没有任何听力学发现。我们在此报告两名兄弟姐妹，一名18岁的女性和一名16岁的男性，患有拜勒病和听力丧失。进行纯音、Bekesy、言语听力学及听觉脑干反应检查。听力测量数据显示耳蜗源性、高频丢失和进行性听力特征。这种感音神经性听力损失可能是由基因突变引起的。拜勒病患者耳蜗功能障碍的机制尚不清楚，然而，一种新的耳聋基因可能与拜勒病有关。(C) 1999年东北大学医学出版社。
Progressive familial intrahepatic cholestasis, sometimes described as Byler disease, is a lethal liver disease and its inheritance is autosomal recessive. There is a previous report on the occasional association between this disease and sensorineural hearing loss without any audiological findings. We report here two siblings, an 18-year-old female and a 16-year-old male, suffering from Byler disease and hearing loss. Pure tone, Bekesy and speech audiometries and auditory brain stem response examination were performed. Audiometric data showed hearing characteristics of cochlear origin, high-frequency loss and progressiveness. This sensorineural hearing loss possibly results from a genetic mutation. The mechanism of cochlear disorder in patients with Byler disease is unknown, however, a novel gene responsible for deafness might be found to be related to Byler disease. (C) 1999 Tohoku University Medical Press.