Verstreken M, Declau F, Wuyts F L, D'Haese P, Van Camp G, Fransen E, Van den Hauwe L, Buyle S, Smets R E, Feenstra L, Van der Stappen A, Van de Heyning P H
University Department of Otorhinolaryngology, University of Antwerp, Wilrijkstraat 10, B-2650 Antwerp, Belgium.
Otol Neurotol. 2001 Nov;22(6):874-81. doi: 10.1097/00129492-200111000-00028.
To report the clinical, auditory, and vestibular characteristics of a nonsyndromic otovestibular dysfunction in a large Belgian family caused by a missense mutation of the DFNA9 gene: COCH.
Retrospective study of the clinical, audiologic, and vestibular data of 60 genetically affected cases.
Tertiary referral center.
All members of a Belgian kindred who carry the genetic (P51S) defect linked to the inherited hearing and vestibular impairment.
Diagnostic otologic, audiometric, and vestibular analysis and imaging.
Pure tone audiometry, supraliminary audiometry. and vestibular investigation.
The autosomal dominant inherited impairment was characterized by peripheral degeneration of the inner ear, leading to total deafness and bilateral vestibular areflexia.
The genetically affected persons of a Belgian family shared a progressive sensorineural hearing loss starting between the third and sixth decade. Vestibular symptoms started at about the same age as the hearing loss. The vestibular symptoms consisted of instability in darkness, a tendency to fall sideways, light-headiness, a drunken feeling, and attacks of vertigo. Most of the patients reported tinnitus, and half of them reported pressure in the ears. Clinically, 9 of the 60 patients met the criteria for definite Ménière's disease, and another 13 and 17 patients met the criteria for probable or possible Ménière's disease, respectively. All 9 were older than the age of 35, but only 1 was older than 55 years, so more than 30% of the patients were between 35 and 55 years old. A specific pattern could be recognized in the evolution of the otovestibular impairment. Under the age of 35 years, almost all the affected family members had normal hearing, whereas above the age of 55 years, the hearing loss was at least moderate, and vestibular hypofunction occurred. In between, there was a transition period of two to three decades, when deterioration of the cochleovestibular function occurred, with a temporary audiometric and vestibular asymmetry.
报告由DFNA9基因（COCH）错义突变导致的一个比利时大家族非综合征性耳前庭功能障碍的临床、听觉及前庭特征。
对60例基因受累病例的临床、听力学及前庭数据进行回顾性研究。
三级转诊中心。
一个比利时家族中所有携带与遗传性听力及前庭损害相关的基因（P51S）缺陷的成员。
诊断性耳科、听力测定及前庭分析和影像学检查。
纯音听力测定、超阈听力测定及前庭检查。
常染色体显性遗传性损害以内耳外周性退变为特征，导致全聋及双侧前庭反射消失。
一个比利时家族的基因受累者共有进行性感音神经性听力损失，起病于第三至第六个十年。前庭症状与听力损失开始于大致相同的年龄。前庭症状包括黑暗中不稳、向一侧跌倒的倾向、头晕、醉酒感及眩晕发作。大多数患者报告有耳鸣，其中一半报告有耳部压迫感。临床上，60例患者中有9例符合确诊梅尼埃病的标准，另有13例和17例分别符合可能或疑似梅尼埃病的标准。所有9例患者年龄均超过35岁，但只有1例超过55岁，因此超过30%的患者年龄在35至55岁之间。耳前庭损害的进展过程中可识别出一种特定模式。35岁以下时，几乎所有受累家庭成员听力正常，而55岁以上时，听力损失至少为中度，且出现前庭功能减退。在此期间，有一个两到三十年的过渡期，此时蜗前庭功能恶化，伴有暂时的听力测定及前庭不对称。
Zotero 插件