Frejo Lidia, Lopez-Escamez Jose A
Otology & Neurotology Group CTS495, Department of Genomic Medicine, GENYO-Centre for Genomics and Oncological Research-Pfizer/University of Granada/ Junta de Andalucía, PTS, Granada, Spain.
Sensorineural Pathology Programme, Centro de Investigación Biomédica en Red en Enfermedades Raras, CIBERER, Madrid, Spain.
Fac Rev. 2023 May 11;12:11. doi: 10.12703/r/12-11. eCollection 2023.
Ménière's disease (MD) is a rare syndromic disorder of the inner ear defined by sensorineural hearing loss (SNHL) associated with episodes of vertigo and tinnitus. The phenotype is variable, and it may be associated with other comorbidities, such as migraine, asthma, and several autoimmune disorders. The condition has a significant heritability according to epidemiological and genetic data, with a difference in comorbidities according to ethnicity. Familial MD is found in 10%, the most commonly found genes being and , previously associated with autosomal dominant and recessive SNHL. These findings suggest that proteins involved in the tectorial membrane and stereocilia links are critical in the pathophysiology of MD. Moreover, proinflammatory cytokines may have a role in some patients with MD by promoting a persistent inflammatory status. Preliminary data suggest that sodium intake could be related to the release of cytokines, and this may influence the relapsing course of the condition. The ionic homeostasis of the otolithic and tectorial membranes could be critical in suppressing the innate motility of individual hair cell bundles, and focal detachment of the otolithic, or tectorial membranes may cause random depolarization of hair cells and explain changes in tinnitus loudness or the triggering of vertigo attacks.
梅尼埃病（MD）是一种罕见的内耳综合征性疾病，其定义为感音神经性听力损失（SNHL），伴有眩晕和耳鸣发作。其表型具有变异性，可能与其他合并症有关，如偏头痛、哮喘和几种自身免疫性疾病。根据流行病学和遗传学数据，该病具有显著的遗传力，且合并症因种族而异。10%的患者为家族性梅尼埃病，最常发现的相关基因是先前与常染色体显性和隐性SNHL相关的基因。这些发现表明，参与覆膜和静纤毛连接的蛋白质在梅尼埃病的病理生理学中至关重要。此外，促炎细胞因子可能通过促进持续的炎症状态在一些梅尼埃病患者中发挥作用。初步数据表明，钠摄入可能与细胞因子的释放有关，这可能会影响该病的复发过程。耳石膜和覆膜的离子稳态对于抑制单个毛细胞束的固有运动可能至关重要，耳石膜或覆膜的局灶性脱离可能导致毛细胞随机去极化，并解释耳鸣响度的变化或眩晕发作的触发。
