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Morbus Wilson

Wilson’s disease

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Zusammenfassung

Der M. Wilson ist eine autosomal-rezessiv vererbte Störung des intrahepatischen Kupferstoffwechsels mit konsekutiver Kupferspeicherung in vielen Organen. Klinisch manifestiert sich der M. Wilson entweder als chronische Lebererkrankung und/oder als typische neuropsychiatrische Erkrankung. Die Diagnose wird klinisch gestellt, wenn zusätzlich zur neurologischen Symptomatik entweder Kayser-Fleischer-Kornealringe und/oder eine Erniedrigung der Serumcaeruloplasminspiegels vorliegen. Kein Parameter alleine ist bei rein hepatischer Präsentation zur Bestätigung bzw. zum Ausschluss der Diagnose ausreichend. Erforderlich ist eine Kombination verschiedener Parameter einschließlich molekulargenetischer Befunde (diagnostischer Score der internationalen Expertengruppe). Die medikamentöse Therapie erfordert eine lebenslange Gabe von Kupferchelatoren (D-Penicillamin, Trientine) oder Zinksalzen. Keine dieser Therapiemodalitäten wurde durch kontrollierte Studien validiert. Die Lebertransplantation ist die Therapie der Wahl bei fulminantem M. Wilson und bei therapierefraktärer dekompensierter Zirrhose.

Abstract

Wilson’s disease is an autosomal-recessive inherited disorder of hepatic copper metabolism resulting in copper deposits in many organs. Clinically it appears as a chronic liver and/or typical neurosychiatric disorder. Diagnosis is straightforward if Kayser-Fleischer rings and/or reduced serum ceruloplasmin levels are present in addition to the neurologic symptoms. In cases presenting only with liver symptoms, no single parameter is sufficient to confirm the diagnosis – a combination of parameters including molecular genetic findings is needed (a diagnostic score by an international group has been proposed). Medical treatment requires life-long administration of copper chelators (D-penicillamine, trientine) or zinc. None of these treatment modalities has been confirmed in controlled studies. Liver transplantation is the treatment of choice for fulminant Wilson’s disease and cases with advanced hepatic disease refractory to treatment.

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  1. Universitätsklinik für Innere Medizin III, Gastroenterologie und Hepatologie, Medizinische Universität Wien, Währinger Gürtel 18–20, 1090, Wien, Österreich

    P. Ferenci

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Ferenci, P. Morbus Wilson. Gastroenterologe 3, 212–220 (2008). https://doi.org/10.1007/s11377-008-0161-6

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