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Akuter M. Wilson

Acute Wilson disease

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Zusammenfassung

Der M. Wilson ist eine autosomal-rezessiv vererbte Störung des hepatischen Kupferstoffwechsels. Er äußert sich klinisch in einer Leberschädigung unterschiedlicher Ausprägung und/oder neurologischen Symptomen. Kupferakkumulation und -toxizität führen zur direkten Beeinträchtigung von Hepatozyten mit nachfolgenden Entzündungsprozessen und irreversiblen Schädigungen von Neuronen vorwiegend des extrapyramidalen Systems. Nicht wenige Fälle beginnen akut mit fulminantem Leberversagen oder akut auftretenden neurologischen Störungen, beide Formen können unbehandelt oder bei verzögerter Diagnosestellung und Therapieeinleitung zu irreversiblen Schäden führen bzw. tödlich enden. Eine rasche und sichere Diagnose durch klinische, biochemische und genetische Untersuchung sowie die umgehende Therapieeinleitung mit Chelatoren und in Fällen fulminanten Leberversagens die orthotope Lebertransplantation sind für den Verlauf und die Prognose des akuten M. Wilson entscheidend.

Abstract

Wilson disease is an autosomal recessive inherited disorder of human copper metabolism clinically associated with hepatic damage and/or neurological symptoms of varying degree. Copper accumulation and toxicity result in direct injury to hepatocytes followed by inflammation and irreversible impairment of neurons, mainly in the extrapyramidal system. A not insignificant number of cases begin with fulminant liver failure or acute appearance of neurological symptoms. If left untreated or in the case of delayed diagnosis and treatment, both acute manifestations may result in irreversible symptoms or even death. Rapid and exact diagnosis by means of clinical, biochemical and genetic analysis and the immediate initiation of drug therapy with copper chelators or, in the case of fulminant liver failure, orthotopic liver transplantation are essential for a favourable outcome in patients with acute Wilson disease.

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Authors and Affiliations

  1. Klinik für Gastroenterologie und Onkologie, Zentrum für Innere Medizin, Ev. Diakonissenkrankenhaus Leipzig, Georg-Schwarz-Straße 49, 04107, Leipzig, Deutschland

    D. Huster

  2. Klinik für Neurologie, Paracelsus Klinik Zwickau, Zwickau, Deutschland

    W. Hermann

  3. Klinik und Poliklinik für Viszeral-, Transplantations-, Thorax- und Gefäßchirurgie, Universitätsklinikum Leipzig, Leipzig, Deutschland

    M. Bartels

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  1. D. Huster
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  2. W. Hermann
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  3. M. Bartels
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Correspondence to D. Huster.

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Huster, D., Hermann, W. & Bartels, M. Akuter M. Wilson. Internist 52, 815–822 (2011). https://doi.org/10.1007/s00108-010-2794-z

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