Hearing loss in Muckle‐Wells syndrome

Abstract

Objective. Muckle-Wells syndrome (MWS) is an inherited autoinflammatory disease characterized by fevers, rashes, arthralgia, conjunctivitis, and sensorineural hearing loss. In MWS, NLRP3 gene mutations are associated with excessive interleukin-1 release. The aims of this study were to determine the otologic characteristics of MWS, define trajectories of hearing loss, and explore the association with distinct NLRP3 genotypes.Methods. A prospective observational cohort study of children and adults diagnosed as having MWS was conducted at a single center. NLRP3 gene mutations were determined. Patients underwent standardized clinical, laboratory, and otologic assessments, including pure tone audiometry, vestibular organ testing, and tinnitus evaluation. Trajectories of hearing loss were defined for each genotype. The genotype-specific risk of progression of hearing loss was determined.Results

Autoinflammatory syndromes as causes of fever of unknown origin

“…When deafness occurs, it tends to progress in a step-wise fashion through childhood. 13 Inhibition of IL-1 produces rapid clinical and serological remission in CAPS. [14][15][16] It is hoped that early anti-IL-1 therapy may prevent long-term complications, not only of AA amyloidosis in adults but potentially progressive neurological and physical disability in children.…”

Chronic renal failure due to amyloid nephropathy caused by chronic infection after total hip replacement

“…While cerebral amyloid angiopathy may have been caused amyloidosis, the amyloid proteins associated with amyloid angiopathy are Ab type, which are different from the AA type. Genetic familial amyloidosis can be ruled out in the case of our patient, because it is usually a localized lesion mostly occurring in the eyes and peripheral nerves, and this pattern of involvement was not found in our patient [17][18][19][20].…”

How to identify a patient with autoinflammatory syndrome: Clinical and diagnostic algorithms

“…Воспалитель-ный характер поражения улитки можно выявить при по-мощи МРТ (усиление МР-сигнала от внутреннего уха), что позволяет отличить нейросенсорную тугоухость при CINCA/NOMID от невоспалительных форм тугоухости. Заболевание проявляется задержкой физического и ин-теллектуального развития, малой продолжительностью жизни, развитием слепоты, потери слуха, а также высо-ким риском возникновения амилоидоза -непосредст-венной причины смерти [11,12].…”