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<p>Wilson’s disease is a&#xa0;rare genetic disorder that leads to copper accumulation, primarily in the liver and brain. It is characterized by a&#xa0;broad clinical presentation, ranging from asymptomatic courses to patients with severe decompensated liver disease and acute liver failure (possibly with hemolysis). Patients can also present with neurological (tremor, rigidity, akinesia, ataxia and dystonia) or psychiatric symptoms (depression, behavioral and personality disorders). The diagnosis is complex and relies on various laboratory findings (ceruloplasmin, urinary copper excretion, liver copper content), clinical findings (neurological symptoms, Kayser-Fleischer rings, hemolysis) and molecular biological findings, with no single test or finding being diagnostic on its own. New tests, such as the determination of relative exchangeable copper (REC) or immunohistochemistry for metallothionein in liver histology, could simplify the diagnosis. With the chelators D‑penicillamine and trientine as well as zinc salts, potent agents are available for the treatment of Wilson’s disease; however, lifelong therapy requires regular monitoring. Determining urinary copper excretion plays a&#xa0;crucial role in this monitoring. The aim of this review is to summarize the key aspects of the diagnosis and treatment of Wilson’s disease.</p>

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Morbus Wilson – Diagnose und Therapie

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年5月28日

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  • Albert F. Stättermayer,
  • Livia Dorn,
  • Andreas Entenmann,
  • Harald Hofer,
  • Wolf-Dietrich Huber,
  • Rudolf Stauber,
  • Daniel Weghuber,
  • Michael Weitersberger,
  • Elmar Aigner

摘要

Wilson’s disease is a rare genetic disorder that leads to copper accumulation, primarily in the liver and brain. It is characterized by a broad clinical presentation, ranging from asymptomatic courses to patients with severe decompensated liver disease and acute liver failure (possibly with hemolysis). Patients can also present with neurological (tremor, rigidity, akinesia, ataxia and dystonia) or psychiatric symptoms (depression, behavioral and personality disorders). The diagnosis is complex and relies on various laboratory findings (ceruloplasmin, urinary copper excretion, liver copper content), clinical findings (neurological symptoms, Kayser-Fleischer rings, hemolysis) and molecular biological findings, with no single test or finding being diagnostic on its own. New tests, such as the determination of relative exchangeable copper (REC) or immunohistochemistry for metallothionein in liver histology, could simplify the diagnosis. With the chelators D‑penicillamine and trientine as well as zinc salts, potent agents are available for the treatment of Wilson’s disease; however, lifelong therapy requires regular monitoring. Determining urinary copper excretion plays a crucial role in this monitoring. The aim of this review is to summarize the key aspects of the diagnosis and treatment of Wilson’s disease.