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  

作　　者：Jing Zou Zikai Zhao Guoping Zhang Qing Zhang Ilmari Pyykko 

机构地区：[1]Department of Otolaryngology-Head and Neck Surgery,Changhai Hospital,Second Military Medical University,Shanghai,China [2]Faculty of Information Technology and Communication Sciences,Tampere University,Tampere,Finland [3]Hearing and Balance Research Unit,Field of Otolaryngology,School of Medicine,Faculty of Medicine and Health Technology,Tampere University,Tampere,Finland

出　　处：《Journal of Otology》2022年第3期175-181,共7页中华耳科学杂志（英文版）

基　　金：supported by the National Natural Science Foundation of China (81771006)

摘　　要：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 1a,and IL7 were significantly elevated,and the level of IL2Ra was reduced.Intratympanic administration of dexamethasone temporarily alleviated her hearing loss.Her vertigo was significantly relieved but remained slight after ES administration of corticosteroids.

关 键 词：Meniere's disease AUTOINFLAMMATION AUTOIMMUNE Immune organ Endolymphatic sac 

分 类 号：R764.33[医药卫生—耳鼻咽喉科]