MEFV、IRF8、ADA、PEPD和NBAS基因变异和血清细胞因子升高在单侧散发性梅尼埃病和内淋巴囊血管充血患者中的作用

IF 1.4 Q2 OTORHINOLARYNGOLOGY
Jing Zou , Zikai Zhao , Guoping Zhang , Qing Zhang , Ilmari Pyykkö
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引用次数: 5

摘要

梅尼埃病(MD)发展的病因和潜在机制尚不清楚,尽管炎症和自身免疫被认为是潜在的机制。人内淋巴囊(ES)在局部免疫反应中具有先天和适应性免疫能力。文献中缺乏MD患者ES炎症的体内证明。我们报告一例47岁的女性患者被诊断为单侧MD,其遗传变异和细胞因子标记表明ES炎症和血管充血。MRI检查右耳蜗(2级)和前庭(3级)内淋巴水肿。她携带MEFV杂合变异体(c.442G >C), IRF8 (C . 1157g >T), ADA (c.445C >T), PEPD (c.151G >A), NBAS (c.4049T >C), CSF2RB (C . 2222c >T), HPS6 (c.277G >T), IL2RB (c.1109C >T), IL12RB1 (c.1384G >T), IL17RC (c.260_271del GCAAGAGC TGGG), LIG1 (c.746G >A), RAG1 (c.650C >A)和SLX4 (c.1258G >C, C . 5072a >G).血清中粒细胞集落刺激因子(G- csf)、巨噬细胞炎症蛋白1α、IL7水平显著升高,IL2Rα水平显著降低。鼓室内给予地塞米松暂时减轻了她的听力损失。她的眩晕明显缓解,但仍轻微后给予皮质类固醇。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

MEFV, IRF8, ADA, PEPD, and NBAS gene variants and elevated serum cytokines in a patient with unilateral sporadic Meniere's disease and vascular congestion over the endolymphatic sac

MEFV, IRF8, ADA, PEPD, and NBAS gene variants and elevated serum cytokines in a patient with unilateral sporadic Meniere's disease and vascular congestion over the endolymphatic sac

MEFV, IRF8, ADA, PEPD, and NBAS gene variants and elevated serum cytokines in a patient with unilateral sporadic Meniere's disease and vascular congestion over the endolymphatic sac

MEFV, IRF8, ADA, PEPD, and NBAS gene variants and elevated serum cytokines in a patient with unilateral sporadic Meniere's disease and vascular congestion over the endolymphatic sac

The etiology and underlying mechanism of Meniere's disease (MD) development are still unknown, although inflammation and autoimmunity have been implicated as underlying mechanisms. The human endolymphatic sac (ES) has been reported to have innate and adaptive immune capacity in local immune reactions. In vivo demonstration of inflammation of the ES in patients with MD is missing in the literature. We report the case of a 47-year-old female patient diagnosed with unilateral MD with genetic variants and cytokine markers indicating inflammation and vascular congestion of the ES. Endolymphatic hydrops in the right cochlea (grade 2) and vestibulum (grade 3) were detected using MRI. She carried heterozygous variants in MEFV (c.442G > C), IRF8 (c.1157G > T), ADA (c.445C > T), PEPD (c.151G > A), NBAS (c.4049T > C), CSF2RB (c.2222C > T), HPS6 (c.277G > T), IL2RB (c.1109C > T), IL12RB1 (c.1384G > T), IL17RC (c.260_271del GCAAGAGC TGGG), LIG1 (c.746G > A), RAG1 (c.650C > A), and SLX4 (c.1258G > C, c.5072A > G). In the serum, the levels of granulocyte colony-stimulating factor (G-CSF), macrophage inflammatory protein 1α, and IL7 were significantly elevated, and the level of IL2Rα was reduced. Intratympanic administration of dexamethasone temporarily alleviated her hearing loss. Her vertigo was significantly relieved but remained slight after ES administration of corticosteroids.

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来源期刊
Journal of Otology
Journal of Otology Medicine-Otorhinolaryngology
CiteScore
2.70
自引率
0.00%
发文量
461
审稿时长
18 days
期刊介绍: Journal of Otology is an open access, peer-reviewed journal that publishes research findings from disciplines related to both clinical and basic science aspects of auditory and vestibular system and diseases of the ear. This journal welcomes submissions describing original experimental research that may improve our understanding of the mechanisms underlying problems of basic or clinical significance and treatment of patients with disorders of the auditory and vestibular systems. In addition to original papers the journal also offers invited review articles on current topics written by leading experts in the field. The journal is of primary importance for all scientists and practitioners interested in audiology, otology and neurotology, auditory neurosciences and related disciplines. Journal of Otology welcomes contributions from scholars in all countries and regions across the world.
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