Contributor: Gordon K. Klintworth
Wilson disease (Kayser disease, Wilson syndrome, hepatolenticular degeneration) is an inherited autosomal recessive disease characterized by a low serum ceruloplasmin, an elevated serum copper and the deposition of copper in various tissues. A low serum level of ceruloplasmin along with impaired excretion of copper in the bile leads to excessive copper deposition in the liver, necrosis of liver cells, and increased copper in the blood stream with secondary deposition in other tissues, especially the cornea.
The disease has a worldwide frequency of ~1 per 35,000. The disorder is due to > 100 mutations in the ATP7B gene. This results in a deficiency in a specific P-type ATPase (copper transporting ATPase beta polypeptide) causing a defective synthesis of ceruloplasmin and a strikingly low serum ceruloplasmin as well as an elevated serum circulating copper and the deposition of copper in many tissues (brain, kidney, heart, skeletal muscle, bones, joints, and eyes). Cirrhosis develops in the liver [cirrhosis - liver] frequently follows liver disease. Choreoathetoid movements and muscular rigidity follows involvement of the brain. Renal glomerular and tubular dysfunction is manifested by proteinuria, decreased glomerular filtration, aminoaciduria, and phosphaturia. Circulating copper deposits in Descemet membrane causing a Kayser-Fleischer ring and in the lens capsule producing a "sunflower cataract" [cataract - sunflower].