{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T09:28:23Z","timestamp":1790155703974,"version":"4.0.1"},"reference-count":34,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,11,14]],"date-time":"2014-11-14T00:00:00Z","timestamp":1415923200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2015,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Data on prevalence, natural history, and effect of enzyme replacement therapy (ERT) on hearing loss (HL) in Fabry disease (FD) are scarce.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This is a retrospective study with cross\u2010sectional and longitudinal analyses. Low and high\u2010frequency HL in the Dutch FD cohort was studied in four groups: classical and non\u2010classical FD patients with or without ERT. To study effects of ERT, longitudinal data, corrected for age and gender according to ISO\u20101999 guidelines, were analyzed with mixed models.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In the cross\u2010sectional analysis, 107 FD patients (41 males), median age 47.6 years (18.8\u201380.6) were analyzed. At baseline, i.e., before start of ERT, HL was present in 18 patients (16.8 %), of whom four had bilateral sensorineural HL. HL was more often present in patients with the classical phenotype than non\u2010classical patients (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.01). Likewise, males had more often HL than females. Compared to the general population, FD patients show a median HL of 8.2 dB at low frequencies (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.01) and 29.5 dB at ultra\u2010high frequencies (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.01). Longitudinal analyses (<jats:italic>n<\/jats:italic>\u2009=\u200991) revealed that ERT treated patients show a similar rate of decline, not significantly different from healthy controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Adult FD patients, especially classical affected males, show impaired hearing. Longitudinal analyses during ERT in these patients demonstrates a decline of HL similar to healthy controls, but HL present before initiation of therapy cannot be reversed. Whether early therapy can prevent hearing loss is unknown.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-014-9783-7","type":"journal-article","created":{"date-parts":[[2014,11,14]],"date-time":"2014-11-14T18:54:51Z","timestamp":1415991291000},"page":"351-358","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Hearing loss in adult patients with Fabry disease treated with enzyme replacement therapy"],"prefix":"10.1002","volume":"38","author":[{"given":"Eefje B.","family":"Suntjens","sequence":"first","affiliation":[{"name":"Sphinx\u2010Amsterdam Lysosome Center, Department of Endocrinology and metabolism, Academic Medical Center University of Amsterdam Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bouwien E.","family":"Smid","sequence":"additional","affiliation":[{"name":"Sphinx\u2010Amsterdam Lysosome Center, Department of Endocrinology and metabolism, Academic Medical Center University of Amsterdam Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marieke","family":"Biegstraaten","sequence":"additional","affiliation":[{"name":"Sphinx\u2010Amsterdam Lysosome Center, Department of Endocrinology and metabolism, Academic Medical Center University of Amsterdam Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wouter A.","family":"Dreschler","sequence":"additional","affiliation":[{"name":"Department of Clinical &amp; Experimental Audiology, Academic Medical Center University of Amsterdam Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla E. 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