63.下列有關威爾遜氏病（Wilson disease）的敘述何者錯誤？
(A)自體隱性遺傳病
(B)鐵代謝障礙
(C)可堆積於肝、腦與眼部
(D)早期診斷、長期治療，可以大幅改善此病的自然病程

Wilson’s dz

Kayser 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 Cu measured includes bound and free.  95% of a normal total Cu level is related to Cu attached to ceruloplasmin.  So, most of the total Cu level is bound to ceruloplasmin, not the Cu that is free.  So, 95% in a normal person the total copper is Cu that is bound and inactive to ceruloplasmin.   So, is ceruloplasmin a protein? Yes.  So, with cirrhosis, are you synthesizing ceruloplasmin? No.  Therefore, there is a decrease of binding protein for Cu.   So,  free cu increased. So, the total Cu level is decreased (b/c less ceruloplasmin), but the free Cu is increased (more unbound).  Rx? PCNamine (Cu binder).  Lenticular nucleus messed up (caudate nucleus in HD)