Morbus Wilson

Zusammenfassung

Morbus Wilson ist eine autosomal-rezessive Erkrankung, bei der es durch Mutationen des ATP7B-Gens zu einer Störung des Kupferstoffwechsels kommt. Eine verminderte biliäre Kupferausscheidung und massive Kupferablagerungen insbesondere in Leber und Gehirn sind die Folge. Klinisch manifestiert sich der M. Wilson klassischerweise als (akute) hepatische Form im Kindes- und Jugendalter oder im jungen Erwachsenenalter mit extrapyramidalmotorischen oder psychiatrischen Symptomen. Unklare Bewegungsstörungen, insbesondere in Kombination mit (sub)klinischer Leberfunktionsstörung sollten aber auch in höherem Alter an den M. Wilson denken lassen. Unbehandelt kommt es zu schwerer Behinderung und Tod. Rechtzeitig erkannt, kann die Symptomprogredienz zumeist gestoppt und eine Rückbildung der Symptome erreicht werden. Der Einsatz von Chelatbildnern führt zu einer renalen Kupferausscheidung, mit Zinksalzen wird die Resorption von Kupfer im Darm gehemmt. Eine Lebertransplantation ist bei schweren hepatischen Verläufen sinnvoll und wird auch bei anders nicht zu kontrollierenden neurologischen Verlaufsformen diskutiert.

Summary

Wilson's disease is an autosomal recessive genetic disorder in which ATP7B mutations lead to a dysfunction of the copper metabolism. A reduced excretion of copper into the bile and excessive copper deposition in the liver and brain are the consequence. Patient’s with WD typically present with hepatic symptoms in late childhood or adolescence, or as young adults with extrapyramidal or psychiatric symptoms. However, it is important to consider WD also in patients with movement disorders after 40 years of age, particularly in combination with a (sub)clinical hepatic dysfunction. If untreated WD results in severe disability or death. If diagnosed at an early stage effective treatment is available that will prevent disease progress and reverse some of the symptoms. Treatment with chelating agents induces renal copper excretion, and zinc salts inhibit duodenal copper resorption. Liver transplant is reasonable in severe hepatic cases and is also considered for a severe neurological course which cannot be successfully treated otherwise.

Schlüsselwörter

Kupfer - ATP7B - D-Penicillinamin - Trientine

Keywords

Copper - ATP7B - chelating agents

• Literatur

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