{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T19:21:42Z","timestamp":1789932102252,"version":"4.0.1"},"reference-count":32,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,2,25]],"date-time":"2013-02-25T00:00:00Z","timestamp":1361750400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arthritis &amp; Rheumatism"],"published-print":{"date-parts":[[2013,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Muckle\u2010Wells syndrome (MWS) is an inherited autoinflammatory disease characterized by fevers, rashes, arthralgia, conjunctivitis, and sensorineural hearing loss. In MWS, <jats:italic>NLRP3<\/jats:italic> gene mutations are associated with excessive interleukin\u20101 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 <jats:italic>NLRP3<\/jats:italic> genotypes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A prospective observational cohort study of children and adults diagnosed as having MWS was conducted at a single center. <jats:italic>NLRP3<\/jats:italic> 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\u2010specific risk of progression of hearing loss was determined.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 33 patients ages 3\u201375 years who were members of 5 families with 4 different <jats:italic>NLRP3<\/jats:italic> gene mutations were included. The majority of patients (67%) experienced bilateral sensorineural hearing loss. Even in cases of profound hearing loss vestibular reactivity remained normal. Fourteen adult patients reported nondebilitating tinnitus. Overall, hearing impairment progressed with age. Patients with the T348M mutation were at highest risk of rapid progression of sensorineural hearing loss.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Patients with MWS are at risk of developing progressive sensorineural hearing loss without vestibular involvement. Hearing impairment starts at high frequencies and can subsequently progress to profound hearing loss. Progression is age dependent. Patients with different <jats:italic>NLRP3<\/jats:italic> mutations had distinctly different trajectories of hearing loss, suggesting a mutation\u2010specific risk that should be considered when making treatment decisions.<\/jats:p><\/jats:sec>","DOI":"10.1002\/art.37810","type":"journal-article","created":{"date-parts":[[2012,12,13]],"date-time":"2012-12-13T18:57:31Z","timestamp":1355425051000},"page":"824-831","source":"Crossref","is-referenced-by-count":63,"title":["Hearing loss in Muckle\u2010Wells syndrome"],"prefix":"10.1002","volume":"65","author":[{"given":"Jasmin B.","family":"Kuemmerle\u2010Deschner","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Assen","family":"Koitschev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharina","family":"Ummenhofer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Hansmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan K.","family":"Plontke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christiane","family":"Koitschev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ina","family":"Koetter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Angermair","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne M.","family":"Benseler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,2,25]]},"reference":[{"key":"e_1_2_6_2_2","first-page":"235","article-title":"Urticaria, deafness, and amyloidosis: a new heredo\u2010familial syndrome","volume":"31","author":"Muckle TJ","year":"1962","journal-title":"Q J Med"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1097\/bor.0000174210.78449.6b"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/art.10688"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.3109\/03009748709102523"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/art.20033"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M607594200"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature04515"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.immunol.021908.132715"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V87.6.2095.bloodjournal8762095"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1074-7613(04)00046-9"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/art.20494"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa055137"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/art.23687"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0810787"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/art.21807"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1136\/ard.2005.038091"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-0029-1239527"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/art.23261"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/lary.20873"},{"key":"e_1_2_6_21_2","first-page":"51","article-title":"Sensorineural hearing loss in children","volume":"103","author":"Wormald R","year":"2010","journal-title":"Ir Med J"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.1097\/00129492-200503000-00004"},{"key":"e_1_2_6_23_2","unstructured":"National Library of Medicine: National Institutes of Health. Genetics Home Reference: nonsyndromic deafness. November2006. URL:http:\/\/ghr.nlm.nih.gov\/condition\/nonsyndromic\u2010deafness."},{"key":"e_1_2_6_24_2","doi-asserted-by":"publisher","DOI":"10.3109\/05384916709074230"},{"key":"e_1_2_6_25_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng756"},{"key":"e_1_2_6_26_2","first-page":"166","article-title":"The tinnitus questionnaire: a standard instrument for grading the degree of tinnitus: results of a multicenter study with the tinnitus questionnaire","volume":"42","author":"Goebel G","year":"1994","journal-title":"HNO"},{"key":"e_1_2_6_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.anl.2010.02.006"},{"key":"e_1_2_6_28_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00405-009-1096-3"},{"key":"e_1_2_6_29_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrrheum.2009.150"},{"key":"e_1_2_6_30_2","doi-asserted-by":"publisher","DOI":"10.1177\/0194599811402296"},{"key":"e_1_2_6_31_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjoto.2008.04.009"},{"key":"e_1_2_6_32_2","doi-asserted-by":"publisher","DOI":"10.1002\/art.25057"},{"key":"e_1_2_6_33_2","doi-asserted-by":"publisher","DOI":"10.1086\/340786"}],"container-title":["Arthritis &amp; Rheumatism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fart.37810","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/art.37810","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T05:30:58Z","timestamp":1697607058000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/art.37810"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,2,25]]},"references-count":32,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2013,3]]}},"alternative-id":["10.1002\/art.37810"],"URL":"https:\/\/doi.org\/10.1002\/art.37810","archive":["Portico"],"relation":{},"ISSN":["0004-3591","1529-0131"],"issn-type":[{"value":"0004-3591","type":"print"},{"value":"1529-0131","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,2,25]]}}}