以听神经病为首发病伴周围神经病家系的听力学及遗传学特征分析

Clinical and Genetic Characteristics Analysis of Auditory Neuropathy Acompanying Peripheral Nervous System Disease

目的分析以听神经病为首发病伴周围神经病家系的临床听力学及遗传学特征。方法对3个以听神经病为首发病伴周围神经病的家系进行病史采集、专科体检、听力学检查及相关的神经系统检查,从患者的临床表型、听力学检测、家系谱图及家系遗传学特征进行分析。结果 3个家系中的患者均以听神经病为首发病,其中,2个家系中的患者伴发Charcot-Marie-Tooth(CMT)综合征、1个家系中的患者伴发运动神经元病。3个家系中患者的表型特点均为青少年期发病的低频下降为主的双侧感音神经性聋,多伴局部感觉及运动障碍。家系谱分析显示两个伴发CMT综合征家系分别具有常染色体隐性及X连锁隐性遗传特征,而伴发运动神经元病家系则表现出常染色体隐性遗传特征。结论部分听神经病可表现为周围神经病的首发病,青少年期发病,双耳低频下降型感音神经性聋;具有为常染色体隐性或X连锁隐性遗传特征。

Objective To analysis the clinical and genetic ry neuropathy and peripheral nervous system disease. Methods characteristics of three Chinese families with audito The three Chinese families with auditory neuropathy and peripheral nervous system disease were investigated by history collectioning, physical examinationing, audiologi cal examinationing and drawing the family trees. The systematic examination of audiology including audiological ex amination,such as pure tone testing, OAE, ABR,and neurologic examination. Results The three families had been diagnosed with bilateral sensorineural hearing loss mainly at low frequency. The hearing loss ranged from mild to serves. Patients all had tinnitus, sensory and movement disorders, partly had ataxia, optic atrophy and other symp toms. Among them, seven of the eight patients accepted systematic examination of audiology. All the audiological diagnostic results showed typical characters of auditory neuropathy. Conclusion Some peripheral neuropathy can present auditory neuropathy firstly. These patients often present bilateral, lowfrequency sensorineural hearing loss,with adolescence onset. The major mode of inheritance is autosomal recessive or Xlinked recessive.