Wilson’s disease is an autosomal-recessive disorder with an ATP7B mutation that causes a functional failure of the copper-transporting protein ATP7B(1,2).As a result,unbound copper in the blood increases,and due to c...Wilson’s disease is an autosomal-recessive disorder with an ATP7B mutation that causes a functional failure of the copper-transporting protein ATP7B(1,2).As a result,unbound copper in the blood increases,and due to copper accumulation,multiple organs show various symptoms,e.g.,Kayser-Fleischer rings,acute liver failure,liver cirrhosis,liver cancer,dysarthria,tremors,character changes,renal disorders,rheumatological symptoms,endocrinopathy,heart failure,and arrhythmias(3,4).This disease afflicts approximately 1 in 40,000 people,with approximately 1 carrier for every 100 people,and early diagnosis is difficult.展开更多
文摘Wilson’s disease is an autosomal-recessive disorder with an ATP7B mutation that causes a functional failure of the copper-transporting protein ATP7B(1,2).As a result,unbound copper in the blood increases,and due to copper accumulation,multiple organs show various symptoms,e.g.,Kayser-Fleischer rings,acute liver failure,liver cirrhosis,liver cancer,dysarthria,tremors,character changes,renal disorders,rheumatological symptoms,endocrinopathy,heart failure,and arrhythmias(3,4).This disease afflicts approximately 1 in 40,000 people,with approximately 1 carrier for every 100 people,and early diagnosis is difficult.
