nutritional disorders
Wilson Disease
Pathophysiology of Wilson Disease
The genetic defect in Wilson disease impairscoppertransport. The impaired transport decreasescoppersecretion into the bile, thus causing thecopperoverload and resultant accumulation in the liver, which begins at birth. The impaired transport also interferes with incorporation ofcopperinto thecopperprotein ceruloplasmin, thus decreasing serum levels of ceruloplasmin. Hepatic fibrosis develops, ultimately causing cirrhosis.Copperdiffuses out of the liver into the blood, then into other tissues. It is most destructive to the brain but also damages the kidneys and reproductive organs and causes hemolytic anemia. Somecopperis deposited around the rim of the cornea and edge of the iris, causing Kayser-Fleischer rings. The rings appear to encircle the iris. 