【Chris】評論

Wilson’s dzKayser Fleischer ring – brown ring around cornea.  What is degeneration called? Hepatolenticular degeneration.  Pt with abnormal movement (chorea) disorder, dementia, and cirrhosis.  Auto recessive.  Defect in ridding Cu in bile; so, the Cu builds up and accumulates in the liver.  Very toxic. So, over a period of months to years, you go from chronic active hepatitis to cirrhosis.  When you get a total Cu level, what does it include? Free Cu and binding protein for Cu.   The binding protein is called ceruloplasmin.  So, some Cu is attached to ceruloplasmin.  So, the total ...

【Mike】評論

威爾森氏症(Wilson’s Disease)是一種自體隱性遺傳疾病, 是因第十三對染色體上的兩個基因(ATP7B)異常, 造成血漿中攜帶銅離子的藍胞漿素(ceruloplasmin)缺乏,使得銅離子代謝產生異常，讓過多的銅離子在肝，腦、角膜、心臟等處沉澱, 而造成全身性的症狀。臨床表現包括肝臟, 神經, 精神, 以及血液方面的表現。 通常早期發病者是以肝臟的症狀為主，例如倦怠、腹痛、肝腫大和黃膽，抽血檢查可發GOT，GPT輕微上升或者正常；如果沒早期發現診斷，隨著時間經過，會演變成慢性肝炎，肝硬化，甚至肝衰竭,。少數患者甚至會以猛爆性肝炎來表現，死亡率相當高。神經或精神方面的症狀表現，通常以運動神經異常, 如構音困難、吞咽困難、僵直、流口水、肢體肌...