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. 2022 Jul;17(3):175-181.
doi: 10.1016/j.joto.2022.03.001. Epub 2022 Mar 15.

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 Zou  1   2 , Zikai Zhao  1 , Guoping Zhang  1 , Qing Zhang  1 , Ilmari Pyykkö  3
Affiliations

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 Zou et al. J Otol. 2022 Jul.

Abstract

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.

Keywords: Autoimmune; Autoinflammation; Endolymphatic sac; Immune organ; Meniere's disease.

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Conflict of interest statement

The authors declare no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Figures

Fig. 1
Fig. 1
Inner ear MRI 24 h after intratympanic administration of Gd-DTPA. T2-sampling perfection with application-optimized contrasts using a flip angle evolution (SPACE) sequence did not indicate either inner ear fibrosis or vestibular schwannoma (A, B). Cochlear grade 2 (C) and vestibular grade 3 (E) endolymphatic hydrops (EH) in the right ear (R) was demonstrated by heavily T2-weighted 3-dimensional fluid-attenuated inversion recovery reconstructed using a magnitude plus zero-filled interpolation (hT2FLAIR-MZFI) sequence acquired 24 h after intratympanic administration of Gd-DTPA mixed with dexamethasone (Zou J. et al., 2022). There was no EH in the left ear (L in D and F). CN: cochlear nerve; FN: facial nerve; LSCC: lateral semicircular canal; SM: scala media; ST: scala tympani; SV: scala vestibuli; VA: vestibular aqueduct; VN: vestibular nerve; Sa: saccule; Ut: utricle. Scale bars = 3.0 mm.
Fig. 2
Fig. 2
Surgical photo of the endolymphatic sac on the right side. Significant vascular congestion (VG) over the surface and surrounding area of the endolymphatic sac (ES).
Fig. 3
Fig. 3
Pure tone audiogram before (A) and 4.5 months postsurgery (B). L: left ear; R: right ear.
Fig. 4
Fig. 4
Sanger sequencing of gene variants.
See this image and copyright information in PMC

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