Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred's syndrome
Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred's syndrome
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DOI：
10.1016/s0165-5876(98)00123-2
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发表时间：
1998-10-02
影响因子：
1.5
通讯作者：
Otten, BJ
中科院分区：
文献类型：
--
作者：
Cremers, CWRJ;Admiraal, RJC;Otten, BJ
长期听力阈值对年龄的随访数据，包括非线性回归分析，给出了12个连续的Pendred患者。Pendred综合征的临床诊断通过PDS基因突变分析得到证实，其中11例受试者中有11例。这12名患者中有7名的颞骨近期成像显示，每例患者的前庭导水管均变宽。诊断高氯酸盐测试是阴性的一名患者，但这个测试是积极的，在她受影响的妹妹。这些患者PDS基因突变分析证实Pendred综合征是一种单基因疾病。进行性感音神经性听力损失和前庭导水管变宽是Pendred综合征的特征性特征，这提供了在生命的最初几年临床上诊断Pendred综合征的机会，如最近在病例报告中所提出的（Cremers等人，耳鼻喉科Pendred综合征患者的进行性感音神经性听力损失和前庭导水管增宽124（1998）501-505）。相关基因的突变分析可用于临床确诊。(C)1998爱思唯尔科学爱尔兰有限公司保留所有权利。
Long-term hearing threshold-on-age follow-up data, including non-linear regression analysis, are given for 12 consecutive Pendred patients. The clinical diagnosis of Pendred's syndrome was confirmed by a mutation analysis of the PDS gene in 11 out of the 11 cases tested. Recent imaging of the temporal bones in seven out of these 12 patients showed widened vestibular aqueducts in each case. The diagnostic perchlorate test was negative in one patient, but this test was positive in her affected sister. Mutation analysis of the PDS gene in these patients confirmed that Pendred's syndrome is a monogenetic disorder. Progressive sensorineural hearing loss and widened vestibular aqueducts are characteristic features of Pendred's syndrome, which provides the opportunity to diagnose Pendred's syndrome clinically in the first few years of life, as has recently been suggested in a case report (Cremers et al., Progressive sensorineural hearing loss and a widend vestibular aqueduct in Pendred syndrome, Arch. Otolaryngol. 124 (1998) 501-505). Mutation analysis of the involved gene can be used to confirm the clinical diagnosis. (C) 1998 Elsevier Science Ireland Ltd. All rights reserved.