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Rheumatologisch wurden vorbefundlich eine rheumatoide Arthritis diagnostiziert mit fehlendem Ansprechen auf eine Basistherapie sowie ebenfalls eine sekund\u00e4re Fibromyalgie. Bei laborchemisch Hypourik\u00e4mie mit nicht nachweisbarer Harns\u00e4ure im Serum erfolgten erg\u00e4nzende Stoffwechseluntersuchungen, die massiv erh\u00f6hte Xanthinwerte im Urin zeigten. Bei normwertiger Nierenfunktion und unauff\u00e4lligem Urinsediment konnten sonographisch kleine Konkremente im Nierenbeckenkelchsystem beidseits dargestellt werden. Es konnte die Diagnose einer Xanthinurie gestellt werden. Hierbei handelt es sich um eine seltene autosomal-rezessiv vererbte St\u00f6rung des Purinstoffwechsels mit fehlender Umwandlung von Hypoxanthin \u00fcber Xanthin zu Harns\u00e4ure \u00fcber das Enzym Xanthinoxidoreduktase. Klinische Verl\u00e4ufe sind teilweise asymptomatisch bis zu symptomatischer Urolithiasis bei erh\u00f6hter renaler Xanthinausscheidung und Myalgien bei intramuskul\u00e4ren Xanthinablagerungen. Zudem werden unspezifische Arthralgien und eine progrediente Niereninsuffizienz im Verlauf der Erkrankung beschrieben. Klinisch kann bei der Symptom\u00fcberlappung der Fibromyalgie und Xanthinurie nicht sicher zwischen beiden Entit\u00e4ten differenziert werden.<\/jats:p>","DOI":"10.1007\/s00393-025-01689-x","type":"journal-article","created":{"date-parts":[[2025,8,14]],"date-time":"2025-08-14T13:14:13Z","timestamp":1755177253000},"page":"746-751","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Langj\u00e4hrige Myalgien und Hypourik\u00e4mie bei einer jungen Frau","Long-standing myalgia and hypouricemia in a young woman"],"prefix":"10.1007","volume":"84","author":[{"given":"Ruta","family":"Venyte","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Corina","family":"Schuster-Amft","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frank","family":"Behrendt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole","family":"Nyfeler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katrin","family":"Parmar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johannes","family":"Lorscheider","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leo H.","family":"Bonati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulrich A.","family":"Walker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans Ulrich","family":"Gerth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,8,14]]},"reference":[{"issue":"11","key":"1689_CR1","doi-asserted-by":"publisher","first-page":"15475","DOI":"10.3390\/ijms131115475","volume":"13","author":"K Ichida","year":"2012","unstructured":"Ichida\u00a0K, Amaya\u00a0Y, Okamoto\u00a0K, Nishino\u00a0T (2012) Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans. 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