Abstract:
BACKGROUND:Muckle-Wells-syndrome (MWS) is an autoinflammatory disease characterized by systemic and organ-specific inflammation due to excessive interleukin (IL)-1 release. Inner ear inflammation results in irreversible sensorineural hearing loss, if untreated. Early recognition and therapy may prevent deafness. The aims of the study were to characterize the spectrum of hearing loss, optimize the otologic assessment for early disease and determine responsiveness to anti-IL-1-therapy regarding hearing. METHODS:A single center prospective cohort study of children and adults with MWS was performed. Standardized clinical, laboratory and otologic assessments including standard pure tone audiometry, additional high tone thresholds, vestibular organ testing, tinnitus evaluation and functional disability classes were determined serially. Pure-tone-average models were developed and evaluated. Risk factors for hearing loss and the impact of anti-IL-1 treatment were determined. RESULTS:A total of 23 patients with genetically confirmed MWS were included, of whom 63 % were females; 52 % were children. At baseline all patients had active MWS; 91 % reported clinically impaired hearing with 74 % having an abnormal standard assessment (0.5-4 kHz). In contrast, high frequency pure tone averages (HF-PTA) were abnormal in all symptomatic patients including those with early hearing loss (sensitivity 100 %). Females were at highest risk for hearing loss even after adjustment for age (p = 0.008). Treatment with IL-1 blockade resulted in improved or stable hearing in 91 % of patients. CONCLUSIONS:Early inner ear inflammation in MWS primarily affects the high frequencies, beyond the range of standard otologic assessment tools. The HF-PTA is a sensitive tool to detect imminent hearing loss and monitor treatment response.
journal_name
Pediatr Rheumatol Online Jjournal_title
Pediatric rheumatology online journalauthors
Kuemmerle-Deschner JB,Koitschev A,Tyrrell PN,Plontke SK,Deschner N,Hansmann S,Ummenhofer K,Lohse P,Koitschev C,Benseler SMdoi
10.1186/s12969-015-0041-9subject
Has Abstractpub_date
2015-11-04 00:00:00pages
43issue
1issn
1546-0096pii
10.1186/s12969-015-0041-9journal_volume
13pub_type
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journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/1546-0096-12-42
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abstract:: Although musculoskeletal ultrasound (MSUS) has emerged as an indispensible tool among physicians involved in musculoskeletal medicine in the last two decades, only recently has it become more attractive to pediatric rheumatologists. Thereafter, the use of MSUS in pediatric rheumatology has started to increase. Yet, a...
journal_title:Pediatric rheumatology online journal
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journal_title:Pediatric rheumatology online journal
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journal_title:Pediatric rheumatology online journal
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journal_title:Pediatric rheumatology online journal
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journal_title:Pediatric rheumatology online journal
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journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
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journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/1546-0096-7-11
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journal_title:Pediatric rheumatology online journal
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journal_title:Pediatric rheumatology online journal
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journal_title:Pediatric rheumatology online journal
pub_type: 社论
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更新日期:2013-02-15 00:00:00
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journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
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journal_title:Pediatric rheumatology online journal
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doi:10.1186/1546-0096-5-2
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journal_title:Pediatric rheumatology online journal
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journal_title:Pediatric rheumatology online journal
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更新日期:2019-09-18 00:00:00
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更新日期:2011-12-09 00:00:00
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journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
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更新日期:2007-09-27 00:00:00
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journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章,多中心研究
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更新日期:2015-11-04 00:00:00
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journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
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更新日期:2017-05-30 00:00:00
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journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/1546-0096-10-8
更新日期:2012-04-10 00:00:00
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journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章,多中心研究
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更新日期:2017-12-28 00:00:00
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pub_type: 杂志文章
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更新日期:2011-10-20 00:00:00