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Ihnen ist eine spezifische lysosomalen Funktionsst\u00f6rung gemeinsam, wodurch es \u2013 anstatt zum Abbau von Metaboliten \u2013 zur Substratanreicherung in Lysosomen kommt. Aufgrund des Mangels\/Fehlens von \u03b1\u2011Galaktosidase werden Globotriaosylceramide (Gb3) in Lysosomen der Organe abgelagert. Neben Akropar\u00e4sthesien, Angiokeratomen, autonomen Dysfunktionen, Vortex-Keratopathien, isch\u00e4mischen zerebralen oder kardialen Komplikationen und einer chronischen Niereninsuffizienz kommen auch vestibulocochle\u00e4re Funktionsst\u00f6rungen mit einem pl\u00f6tzlichen oder fortschreitenden asymmetrischem H\u00f6rverlust, Tinnitus und Schwindel vor.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patienten und Methoden<\/jats:title><jats:p>In dieser retrospektiven Studie erfolgte die Auswertung von 33\u00a0Patienten (m\u202f=\u200916 und w\u202f=\u200917) mit FD. Alle Patienten wurden uns im Rahmen einer Routineuntersuchung vom spezialisierten Zentrum f\u00fcr lysosomale Speicherkrankheiten der Nephrologie im Haus vorgestellt. Diese Vorstellung erfolgt als Screening-Untersuchung unabh\u00e4ngig von neurootologischen Symptomen.<\/jats:p><\/jats:sec><jats:sec><jats:title>Ergebnisse<\/jats:title><jats:p>Das Durchschnittsalter bei Diagnose betrug 34,76 (\u00b111,55) Jahre. Die erstmalige Vorstellung in unserer HNO-Abteilung erfolgte mit 40,45 (\u00b111,71) Jahren. Wir konnten eine signifikante Korrelation zwischen neurologischen Symptomen und einer H\u00f6rminderung (<jats:italic>p<\/jats:italic>\u202f=\u20090,001) sowie zwischen Herzmanifestationen und einer H\u00f6rminderung (<jats:italic>p<\/jats:italic>\u202f=\u20090,024) nachweisen.<\/jats:p><\/jats:sec><jats:sec><jats:title>Schlussfolgerung<\/jats:title><jats:p>Schwerh\u00f6rigkeit ist ein m\u00f6gliches Symptom bei Morbus Fabry und nicht nur auf den klassischen m\u00e4nnlichen Ph\u00e4notyp beschr\u00e4nkt. Bei nachgewiesenen Korrelationen mit neurologischen und kardiologischen Manifestationen der Krankheit sollte eine routinem\u00e4\u00dfige HNO-Screening-Untersuchung erfolgen, um neurootologische Defizite zu erkennen und behandeln zu k\u00f6nnen. Ebenso sollte vor allem bei j\u00fcngeren Patienten mit einem pl\u00f6tzlichen ein- oder beidseitigen H\u00f6rverlust und einer famili\u00e4ren H\u00e4ufung FD als Differenzialdiagnose in Betracht gezogen und getestet werden.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s00106-023-01360-4","type":"journal-article","created":{"date-parts":[[2023,9,25]],"date-time":"2023-09-25T08:02:10Z","timestamp":1695628930000},"page":"16-24","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Neurootologische Manifestationen bei Morbus Fabry\u00a0\u2013 eine retrospektive Analyse","Neuro-otological manifestations in Fabry disease\u2014a\u00a0retrospective single center study"],"prefix":"10.1007","volume":"72","author":[{"given":"Katharina","family":"Storck","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Stenzl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Regenbogen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benedikt","family":"Hofauer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Knopf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,9,25]]},"reference":[{"key":"1360_CR1","doi-asserted-by":"publisher","first-page":"1631","DOI":"10.1681\/ASN.2016090964","volume":"28","author":"M Arends","year":"2017","unstructured":"Arends\u00a0M, Wanner\u00a0C, Hughes\u00a0D et\u00a0al (2017) Characterization of classical and nonclassical Fabry disease: a\u00a0multicenter study. 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