Păcurar Daniela 1, Moraru Alexandra 1, Leșanu Gabriela 1, Orășeanu D. 1
1 Department of Pediatrics, ”Grigore Alexandrescu” Emergency Children’s Hospital, Bucharest
Abstract
Wilson disease is a genetic autosomal recessive disorder caused by metabolic errors due to a continuous accumulation and copper toxicity in many tissues, particularly the liver, brain, eye. The liver is the seat of both etiological and biochemical abnormality affected by copper deposition. Wilson disease is a treatable disease. With appropriate therapy the disease progression could be stopped and symptoms can often be improved. Treatment is aimed at removing excessively accumulated copper and preventing its further accumulation and is for lifetime. Diet without copper in Wilson disease is difficult to meet, almost all foods containing copper. Drugs used in the treatment of Wilson’s disease are copper chelators class: D-penicillamine, trientine, ammonium tetrathiomolibdat. These drugs bind copper and promote the urinary excretion of copper. Teratiomolibdat is still under investigation in Wilson disease and may represent a therapeutic alternative for D-penicillamine in neurological damage caused by the disease. Long term therapy of Wilson’s disease is based on the use of zinc salts. Zinc acts by blocking the intestinal absorption of copper and preventing the accumulation of deposits. The major advantage of zinc salts is the absence of adverse effects. New medications with antioxidant effect such as vitamin E or curcumin have not accumulated enough evidence to be put into practice. Patients with severe liver failure need liver transplantation. Interrupting chelation therapy causes aggravation of the disease so treatment should be followed for lifetime.