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Nervenheilkunde 2007; 26(09): 774-780
DOI: 10.1055/s-0038-1626925
Original Article
Schattauer GmbH

Morbus Wilson

Eine behandelbare metabolische SystemerkrankungWilson’s disease- a treatable metabolic disease
A. Straube
1   Neurologische Klinik und Poliklinik, Klinikum Großhadern, Ludwig-Maximilians-Universität München
,
W. Hermann
2   Abteilung Neurologie, Paracelsus Klinik Zwickau
› Author Affiliations
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Publication History

Eingegangen am: 16 February 2007

Publication Date:
20 January 2018 (online)

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Zusammenfassung

Der Morbus Wilson ist eine hepatische Kupferausscheidungsstörung mit autosomal-rezessivem Erbgang. Klinisch manifestiert er sich zwischen dem 5. und 40. Lebensjahr mit hepatischen und/oder extrapyramidalmotorischen und neuropsychologischen Symptomen und nimmt unbehandelt einen progressiven Verlauf. Obwohl der genetische Defekt der ATPase 7B auf dem Chromosom 13 kausal nicht behebbar ist, kann durch eine rechtzeitig begonnene Therapie der toxischen Kupferakkumulation eine anhaltende klinische Symptomfreiheit erreicht werden. Aus diesem Grund fordert jede unklare Leber-und Bewegungsstörung die differenzialdiagnostische Abklärung eines Morbus Wilson. Gegenwärtig sind effiziente Medikamente zur Minderung der Kupferresorption (Zinkpräparate) und Erhöhung der renalen Kupferausscheidung (Chelatbildner wie D-Penicillamin und Trien) verfügbar. Die therapeutischen Konzepte richten sich nach dem Stadium der Erkrankung und müssen durch regelmäßige Kontrollen des Kupferstoffwechsels geprüft werden.

Summary

Wilson’s disease is an autosomal recessive disorder of the hepatic copper excretion. Clinical manifestation is between the 5th and 40th year with hepatic or extrapyramidal symptoms and the course of the disease is progressive if the diagnosis is not done early and no adequate therapy is started. The genetic defect is caused bya mutation of the ATPase 7B gene on chromosome 13 which codes for an enzyme necessary for the excretion of copper in the bile. All therapeutical strategies are directed towards a negative copper balance either by a reduced copper absorption (zinc) in the gut or an increased copper elimination (chelating agens d-penicillamine and trientine). The therapy should be chosen in regard to the stadium of the disease and the copper metabolism has to be controlled in regular intervals.

Schlüsselwörter

Kupfer - ATP7B - H1069Q-Mutation - D-Penicillamin - Trien - Zink

Keywords

Copper - autosomal recessive disease - negative copper balance
 

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