摘要
威爾森氏症是因人體第十三對染色體上的基因異常，造成的自體隱性遺傳疾病，使血漿銅藍蛋白缺乏，而導致銅離子代謝異常，造成銅離子堆積在許多器官包括肝、腎、腦、眼睛等，進而造成器官的損壞，其臨床初始症狀多樣，因此較難診斷，其症狀主要分為三大類，分別為肝臟症狀、神經學症狀、精神症狀，其中約有七成病人會出現精神症狀，例如憂鬱症、人格改變、情緒不穩、躁症、精神錯亂等，由於這些都是典型精神疾病症狀，所以在一開始常常誤診為一般精神疾病，而錯過威爾森氏症之治療，本篇藉由此疾病介紹、診斷與一個實際臨床個案，從症狀出現到診斷為威爾森氏症的過程與治療方式，做一文獻回顧與討論，以供未來臨床之參考。
並列摘要
Wilson's disease is an autosomal recessive disorder caused by a gene abnormality on human chromosome 13, leading to plasma ceruloplasmin deficiency and resulting in abnormal copper ion metabolism and, thus, the pathological accumulation of copper ions in various organs, including the liver, kidney, brain, and eyes. The initial clinical symptoms of Wilson's disease vary depending on the affected organs, making diagnosis difficult. These symptoms are divided into three categories: liver disease, neurological disorders, and psychiatric disorders. Approximately 70% of the patients develop psychiatric symptoms such as depression, personality changes, emotional instability, mania, and psychosis. Because these are typically psychiatric symptoms, patients with Wilson's disease are often misdiagnosed initially and thus miss the treatment opportunities. This article introduces the background and diagnosis and describes a real case of Wilson's disease from symptoms emergence, diagnosis, and treatment, with a literature review and discussion for further reference.