聽力學(xué)表型在大前庭水管綜合征早期診斷中的意義
發(fā)布時(shí)間：2018-08-07 17:27
【摘要】：目的探討大前庭水管綜合征(LVAS)患者的聽力學(xué)表型特點(diǎn)以期對(duì)LVAS早期診斷作出進(jìn)一步指導(dǎo)。方法回顧分析63例大前庭水管綜合征(LVAS)及8例疑似LVAS患者的病史、聽力學(xué)及基因?qū)W檢測(cè)結(jié)果。結(jié)果 LVAS患者中聽性腦干反應(yīng)(ABR)檢查者58例,出現(xiàn)特征性的聲誘發(fā)短潛伏期負(fù)反應(yīng)(ASNR)29例,占總數(shù)的50.00%(29/58),負(fù)波潛伏期范圍在2.56±0.39ms;58例非LVAS的聽障患兒作為對(duì)照組,其均未發(fā)現(xiàn)ASNR;LVAS患者行純音測(cè)聽檢查者22例(44耳),出現(xiàn)混合性聽力下降者10例(20耳),占45.45%(20/44),其中有11耳在低頻發(fā)現(xiàn)骨氣導(dǎo)差,有12耳鼓室壓圖均為A型,2耳鼓室壓圖為As型,其中有8耳引出聲反射;LVAS患者行SLC26A4基因篩查者26例,純合突變11例,單雜合突變13例,陰性2例,陽(yáng)性率92.31%(24/26)。結(jié)論大前庭水管綜合征具有特征性表現(xiàn)ABR負(fù)波和中耳功能正常情況下出現(xiàn)骨氣導(dǎo)差,該特征性表現(xiàn)對(duì)指導(dǎo)首診患者進(jìn)一步明確診斷,預(yù)防聽力下降有重要意義。
[Abstract]:Objective to investigate the phenotypic characteristics of auditory mechanics in patients with large vestibular aqueduct syndrome (LVAS) in order to provide further guidance for early diagnosis of LVAS. Methods 63 patients with large vestibular aqueduct syndrome (LVAS) and 8 patients with suspected LVAS were analyzed retrospectively. Results among the patients with LVAS, 58 cases were examined with (ABR), 29 cases (50.00%) of the total patients had the characteristic acoustic-evoked short latency (ASNR) (29 / 58). The latency range of negative wave was 2.56 鹵0.39 Ms in 58 children with non-LVAS as the control group. There were 22 cases (44 ears) with pure tone audiometry and 10 cases (45.45%) with mixed hearing loss in all patients with ASNRV LVAS. Among them, 11 ears (45.45%) were found to have poor bone gas conductance at low frequency, and 12 cases of tympanograms were type A and 2 ears were as type. Among them, 26 cases were screened for SLC26A4 gene, 11 cases were homozygous mutation, 13 cases were single heterozygosity mutation, and 2 cases were negative. The positive rate was 92.31% (24 / 26). Conclusion the large vestibular aqueduct syndrome has the characteristic ABR negative wave and the bone gas conduction difference under the normal condition of the middle ear function. This characteristic manifestation is of great significance to guide the diagnosis of the first diagnosis and prevent hearing loss.
【作者單位】： 貴州醫(yī)科大學(xué);貴州省人民醫(yī)院聽力中心;貴州醫(yī)科大學(xué)附屬醫(yī)院耳鼻喉科;
【分類號(hào)】：R764
，
本文編號(hào)：2170797
[Abstract]:Objective to investigate the phenotypic characteristics of auditory mechanics in patients with large vestibular aqueduct syndrome (LVAS) in order to provide further guidance for early diagnosis of LVAS. Methods 63 patients with large vestibular aqueduct syndrome (LVAS) and 8 patients with suspected LVAS were analyzed retrospectively. Results among the patients with LVAS, 58 cases were examined with (ABR), 29 cases (50.00%) of the total patients had the characteristic acoustic-evoked short latency (ASNR) (29 / 58). The latency range of negative wave was 2.56 鹵0.39 Ms in 58 children with non-LVAS as the control group. There were 22 cases (44 ears) with pure tone audiometry and 10 cases (45.45%) with mixed hearing loss in all patients with ASNRV LVAS. Among them, 11 ears (45.45%) were found to have poor bone gas conductance at low frequency, and 12 cases of tympanograms were type A and 2 ears were as type. Among them, 26 cases were screened for SLC26A4 gene, 11 cases were homozygous mutation, 13 cases were single heterozygosity mutation, and 2 cases were negative. The positive rate was 92.31% (24 / 26). Conclusion the large vestibular aqueduct syndrome has the characteristic ABR negative wave and the bone gas conduction difference under the normal condition of the middle ear function. This characteristic manifestation is of great significance to guide the diagnosis of the first diagnosis and prevent hearing loss.
【作者單位】： 貴州醫(yī)科大學(xué);貴州省人民醫(yī)院聽力中心;貴州醫(yī)科大學(xué)附屬醫(yī)院耳鼻喉科;
【分類號(hào)】：R764
，
本文編號(hào)：2170797
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