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
Jing Zou1
Zikai Zhao2
Guoping Zhang2
Qing Zhang2
Ilmari Pyykk?3
1.Department of Otolaryngology-Head and Neck Surgery,Changhai Hospital,Second Military Medical University,Shanghai,China;Faculty of Information Technology and Communication Sciences,Tampere University,Tampere,Finland2.Department of Otolaryngology-Head and Neck Surgery,Changhai Hospital,Second Military Medical University,Shanghai,China3.Hearing and Balance Research Unit,Field of Otolaryngology,School of Medicine,Faculty of Medicine and Health Technology,Tampere University,Tampere,Finland
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 liter-ature.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.
机标关键词：congestionpatientgeneoverwithcytokinesdiseaseelevated
论文发表日期：2022-09-30
在线出版日期：2025-08-15（本平台首次上网日期，不代表文献的发表时间）
页数：7( 175-181 )
英文信息