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Ménière's Disease
Published in John C Watkinson, Raymond W Clarke, Christopher P Aldren, Doris-Eva Bamiou, Raymond W Clarke, Richard M Irving, Haytham Kubba, Shakeel R Saeed, Paediatrics, The Ear, Skull Base, 2018
While Ménière’s disease is sporadic in the majority of cases, an estimated 5–15% of cases are familial.5 Several candidate genes have been proposed for Ménière’s disease, including AQP2, KCNE1, KCNE3, HCFC1, COCH, ADD, HSPA1A, PTPTN22 and IL1. Many of them are linked to inner ear ion and water transportation. AQP2 is one of the aquaporin water channel genes,6KCNE1 and KCNE3 are potassium channel genes7 and ADD1 is linked to a sodium–potassium pump activity regulator.3COCH is linked to cochlin protein production, which is part of the extracellular matrix of the inner ear.8COCH gene is also known as DFNA9 and leads to progressive non-syndromic deafness and bilateral vestibular areflexia.9HCFC1 is associated with the host cell factor C1 which has been involved in cell cycle control and transcriptional regulation during herpes simplex virus infection.10HSPA1A is related to single nucleotide polymorphisms of the heat-shock protein 70 gene,11PTPN22 encodes a lymphoid protein phosphatase12 and the interleukin-1 gene (IL1).13 A higher prevalence of autoimmune diseases and longer spells of vertigo have been reported in patients affected by a familial form of Ménière’s disease.14,15 The familial form is more prone to present bilaterally during a lifetime.16
The Pathogenesis of secondary forms of Autoimmune Inner Ear Disease (AIED): advancing beyond the audiogram data
Published in Expert Review of Clinical Immunology, 2021
Virginia Corazzi, Stavros Hatzopoulos, Chiara Bianchini, Magdalena B Skarżyńska, Stefano Pelucchi, Piotr Henryk Skarżyński, Andrea Ciorba
The immune-complex deposition in the labyrinthine artery is reported to cause vasculitis, reducing the vessel caliber, and consequently decreasing the blood supply to the inner ear [59]. The subsequent cochlear micro-infarctions lead to hair cells and spiral ganglions damage, with SNHL onset [59]. Auto-antibody production has been considered playing an important role in the pathogenesis of SNHL in systemic rheumatoid disease, due to a direct cytotoxic damage, and to immune-complex formation and immune-complex-related inflammation [22]. Human antibodies and T-cells specific for cochlin, a protein predominantly expressed in the inner ear with an important role in maintaining the vestibule homeostasis, have been observed in patients with idiopathic SNHL [60]; this immune response to cochlin has been addressed as a possible pathogenetic theory in autoimmune hearing loss, suggesting a strong relation between cochlin and AIED [22]. Nonetheless, Tsirves et al. [22] on a total of 133 patients with systemic rheumatic disease, did not find any statistically significant correlation between hearing loss and anti-cochlin IgG antibodies.
Emerging drugs for the treatment of epidermolysis bullosa
Published in Expert Opinion on Emerging Drugs, 2020
Matthias Titeux, Mathilde Bonnet des Claustres, Araksya Izmiryan, Helene Ragot, Alain Hovnanian
Bacterial infection in EB patients is not only favored by loss of skin barrier function in denuded areas, but also by additional mechanisms, such as altered immunocompetence. The impaired immune response can be secondary to nutrition depletion, protein-energy malnutrition, and anemia that have been reported in severe EB types [20]. Bacterial colonization in RBEB wounds can also result from the absence of C7 in the extracellular matrix (ECM) of secondary lymphoid organs which impairs cochlin localization, a modulator of innate immunity and bacterial clearance [21]. Diluted bleach baths, topical antiseptics and topical antibiotics are used to treat local skin infections. Systemic antibiotics are required when wounds are clearly infected, adapted to the culture and the sensitivity results.