Wilson's disease is a hereditary, autosomal recessive disorder of copper metabolism that leads to pathological accumulation of copper in many organs and tissues. The main disturbance is reduced biliary excretion of copper, leading to its accumulation in many organs, including liver, brain and cornea. Excess copper in the tissues results in the formation of free radicals.
Reflected the different clinical pictures and never in such. Two patients were not similar. The most common liver disease and neuropsychiatric disorders. Early symptoms are nonspecific and nekarekteristični. Most patients with Wilson disease have some degree of liver disease. Chronic liver disease can occur years before the appearance of neurological symptoms. There may be various forms of liver disease, from asymptomatic elevation of aminotransferases to acute hepatitis, fulminalnog liver failure, chronic hepatitis and cirrhosis with all the complications.
Wilsonski Acute hepatitis can not be distinguished from other forms of acute hepatitis. It should be suspected in young patients with acute non AE hepatitis. The disease can rapidly deteriorate and resemble fulminant hepatic failure. From necrotic hepatocytes are released large amounts of copper, which can lead to severe hemolytic anemia. Aminotransferase activity, although elevated, is lower than the value which is normally found in fulminant hepatitis. The combination of anemia, jaundice and high and relatively low aminotransferase values in young patients should arouse suspicion of acute Wilson's disease. The best diagnostic test is the quantification of copper in the bioptic material or eksplantiranoj liver.
Chronic hepatitis caused by Wilson's disease is no different from chronic hepatitis of other etiology. A liver biopsy shows severe chronic active hepatitis, and the diagnosis must be measured copper content.
Neurological symptoms usually occur in the middle teens or twenties. Initial symptoms may be subtle, such as slight tremor, difficulty in speaking and writing, and may settle or deteriorate over time. Main obolježje neurological Wilson's disease is a progressive disorder of motor skills. About a third of patients present with psychiatric symptoms such as reduced work capacity, depression, unstable mood and psychosis.
The diagnosis is usually made based on clinical findings and laboratory abnormalities. The diagnosis is more complex in patients with even a liver disease. In the absence of typical clinical findings, measurement of the concentration of copper in the liver tissue is mandatory in any patient with unexplained elevated liver enzymes, and some abnormal parameters of copper metabolism.
If there is a strong suspicion, should be measured in patients with no signs of changes in the metabolism of copper.
Penicillamine is still the gold standard for therapy. In a few weeks to months is the amount of copper lowers the threshold subtoksičnost and to begin repairing the tissue. The usual dose is 1 to 1.5 g / day, and when it is established clinical drug effects, the dose can be reduced to 0.5 g / day. It is necessary to give pyridoxine at a dose of 50 mg per week to prevent vitamin deficiency caused by penicillamine. Trientin the chelating agent of copper, acts by increasing urinary excretion of copper, and interferes with absorption of copper. Given in doses of 1-2 g / day given in three doses on an empty stomach. It is equally effective as penicillamine, and has fewer side effects, some of which is the most common siderblastična anemia.
Liver transplantation is the therapy of choice in patients with fulminant disease and those with decompensated liver cirrhosis. Transplantation corrects the primary biochemical disorder that leads to Wilsonovve disease. The uncertain role of transplantation in the treatment of patients with neurologic Wilson's disease in the absence of liver failure.
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