a2zmedicalnote

 What is the aim of treatment of Wilson disease? Removal or copper deposited in various organ and Prevention of reaccumulating. Along with the pharmacological therapy people with Wilson disease should reduce the consumption of Copper containing food items.  For Clinical features and diagnosis of Wilson Disease  First introduced in 1956 AD and still the standard of treatment. How does it act? The sulfhydryl group in d-penicillamine chelates copper removes the copper from the tissue and out of the body via urinary excretion. It can also induce the endogenous hepatic metallothionein, a cytosolic metal-binding protein, which sequesters copper and thereby limiting damage to the liver.   How penicillamine is absorbed? Its absorption is decreased by as much as 50 percent when taken with food. Thus, it should be taken 1 hour before or 2 hours after meal. What is the dose of D-penicillamine? The drug is introduced at a dose of 250 to 500 mg/day and then increased by 250 mg every 4 t

  Aka Hepatolenticular degeneration  Autosomal Recessive inheritance  What is the defect in Wilson disease? Basic defect in hepatocellular copper transport, leading to the accumulation of copper in the liver and other tissues, including the brain.  ATP7B is a copper-transporting intracellular protein affected in Wilson disease. ATP7B is expressed mainly in hepatocytes.  This defect leads to reduced incorporation of copper into apo ceruloplasmin and decreased transport of copper from the liver into bile, leading to copper excess in tissue.  Although the ceruloplasmin levels are diagnostic in Wilson disease it does not play any significant role in the disease pathogenesis. Note: Hereditary aceruloplasminemia is a disease condition characterized by iron deposition in tissues and not copper  How copper deposition occurs in other tissues? Once the hepatocytes are filled with copper this leads to injury thus liberating the copper in circulation which leads to extrahepatic copper deposition.