Huster D, Hermann W, Bartels M
Klinik für Gastroenterologie und Onkologie, Zentrum für Innere Medizin, Ev. Diakonissenkrankenhaus Leipzig, Georg-Schwarz-Straße 49, 04107, Leipzig.
Internist (Berl). 2011 Jul;52(7):815-22. doi: 10.1007/s00108-010-2794-z.
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.
威尔逊病是一种常染色体隐性遗传的人类铜代谢紊乱疾病，临床上与不同程度的肝损伤和/或神经症状相关。铜的蓄积和毒性导致肝细胞直接受损，随后引发炎症以及神经元不可逆损伤，主要累及锥体外系。相当数量的病例以暴发性肝衰竭或神经症状急性发作为首发表现。若不治疗或诊断及治疗延迟，这两种急性表现均可能导致不可逆症状甚至死亡。通过临床、生化及基因分析进行快速准确诊断，并立即使用铜螯合剂进行药物治疗，对于暴发性肝衰竭患者则进行原位肝移植，这对于急性威尔逊病患者获得良好预后至关重要。
