摘要
威爾森氏症是一種罕見的隱性遺傳疾病，因來自第十三對染色體上負責產生銅運輸酶的基因發生異常，產生銅的代謝異常，造成多器官包括肝、腎、腦、眼睛等的損壞而產生相關的併發症。在常見神經學方面表徵主要是肌肉張力、協調功能與顫抖的問題，以致於影響患者的動作控制和行走步態。此病的診斷主要是根據血清中的藍胞漿素、尿液中的銅排泄量、肝臟中的含銅量，加上於角膜邊出現Kayser-Fleischer氏環。本病例爲25歲女性，因持續惡化的肢體抖動造成行走困難而入院，在住院期間因疾病本身加上藥物副作用，引起白血球和血小板過低等血液學的問題。復健的早期介入除了肢體動作的訓練，並得以安排步態分析檢查以觀察治療前後的變化。在出院後一個月，病患的情況進步到可以獨立行走。本報告對於威爾森氏症，作一討論和文獻回顧，以供臨床醫師參考。
並列摘要
Wilson disease is a rare autosomal recessive inherited disorder of copper metabolism. The genetic defect, localized to chromosome arm 13q, has been shown to affect the copper-transporting adenosine triphosphatase gene. The major pathology is excessive deposition of copper in the liver, brain, and other tissues. The most common presenting neurological features are tremor, dystonia and ataxia that influence the motor control and gait. The diagnosis is confirmed by measurement of serum ceruloplasmin, urinary copper excretion and hepatic copper content as well as the detection of Kayser-Fleischer rings. The subject in our case study is a 25-year-old, female patient with Wilson disease. She was admitted due to tremor that resulted in increasingly difficult walking. While the patient was in the hospital, neutropenia and thrombocytopenia were the major complications due to the side-effects from the pharmacological treatments. The early intervention of rehabilitation programs was offered for the motor training as well as gait analysis.
延伸閱讀
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