遗传性聋三家系听力学调查

An audiologic analysis of three families with hereditary hearing loss

目的：分析无综合征的遗传性进行性感音神经性聋三个家系的听力学特点及遗传特征。方法：三家系纯音测听３３人，耳聋１４例，声导抗、ＡＢＲ测试４人。对这些家系进行相关资料的调查和听力学检查。结果：三个家系语前聋１个家系，语后聋２个家系，表现为双侧对称性进行性听力下降，Ａ家系耳聋始于１２岁后，Ｂ家系耳聋始于２０岁后，首先是高频区受损，迅速依次向中、低频扩展，Ｃ家系出生后即耳聋，表现为聋哑症。４例８耳声导抗及ＡＢＲ测试均证实为耳蜗性感音性听力损失，三个家系男女均有发病，显示了很高的外显率，全身检查未发现其它部位畸形。结论：三个家系可能为无综合征的常染色体显性遗传性感音神经性聋。

Objective:To analyze the audiological data and genetic characteristics collected from three families with the genetic nonsyndromic hereditary hearing loss.Methods: Thirty-three individuals in three families were concerned by pure tone audiometry，14 were deaf,4 were examined acoustic immitance and ABR.Result:Two families had late-onset hearing loss;one had early-onset hearing loss with congenital deaf-mutism.ABR and admittance results showed that the hearing loss was caused by cochlear impairment.The hearing loss started from high frequencies and quickly expended to mid and low frequencies.The male and female patients existed in all three families indicated high or complete penetrance.The malformation of other organs in those patients was not found.Conclusion:The medical history and audiological analysis of the families numbers show the hearing impairment in three pedigrees can be nonsyndromic autosomal dominant progressive sensorineural hearing loss.