Zusammenfassung
Die 44-jährige Patientin wurde mit akutem Leberversagen und ausgeprägter Hämolyse unter der Verdachtsdiagnose der Erstmanifestation eines M. Wilson stationär aufgenommen. Allgemeine charakteristische Kriterien eines M. Wilson wie ein Kayser-Fleischer-Pigmentring, ein erniedrigtes Serumkupfer und ein erniedrigtes Coeruloplasmin waren nicht nachweisbar. Die Verdachtsdiagnose des akuten M. Wilson wurde anhand der Laborkonstellation mit einem Quotient von alkalischer Phospatase zu Bilirubin <2 und einem GOT/GPT-Quotient >4 bei begleitender hämolytischer Anämie gestellt und durch eine massiv erhöhte Kupferausscheidung im 24-h-Urin erhärtet. Daraufhin erfolgte eine Lebertransplantation, die Diagnose des M. Wilson wurde durch eine quantitative Kupferbestimmung in der explantierten Leber bestätigt. Dieser Fallbericht präsentiert die älteste, bisher in der Literatur dokumentierte Patientin mit einem akuten Leberversagen als Erstmanifestation eines M. Wilson.
Abstract
The 44-year old female patient was admitted with acute hepatic failure and extensive haemolysis under the preliminary diagnosis of Wilson's disease. General characteristic criteria of Wilson's disease as Kayser-Fleischer ring, low serum copper and low ceruloplasmin levels were not observed. The preliminary diagnosis of acute Wilson's disease was established on the basis of the characteristic laboratory values with an AP/bilirubin ratio <2, an AST/ALT ratio >4, accompanying hemolysis and a highly elevated cupruresis. The definitive diagnosis of Wilson's disease was verified after orthotopic liver transplantation by quantitative copper evaluation in the explanted liver. The case represents the yet oldest patient reported with an acute manifestation of Wilson's disease.
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Kerber, A., Sarrazin, C., Allers, C. et al. 44-jährige Patientin mit fulminantem Leberversagen. Internist 44, 1301–1307 (2003). https://doi.org/10.1007/s00108-003-1016-3
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DOI: https://doi.org/10.1007/s00108-003-1016-3