[Rare genetic disease of copper metabolism]
SZILI Károly, VANYA Melinda, MÁGORI Krisztina, LAJOS György
DECEMBER 15, 2015
Lege Artis Medicinae - 2015;25(11-12)
SZILI Károly, VANYA Melinda, MÁGORI Krisztina, LAJOS György
DECEMBER 15, 2015
Lege Artis Medicinae - 2015;25(11-12)
[INTRODUCTION - Wilson’s disease is a rare genetic disease of copper metabolism. Nearly, 300 patients in Hungary suffering from Wilson’s disease CASE - 25-year-old male patients were examined because of because speech impairment and ocular symptoms. The increase in blood copper and ceruloplasmin and point mutations in the ATP7B proven confirmed the diagnosis of Wilson’s disease. DISCUSSION - In diagnosis of rare disease is not easy because of the variety of symptoms and the high costs of genetic testing, we would like to draw the attention to it.]
Lege Artis Medicinae
Lege Artis Medicinae
Lege Artis Medicinae
Lege Artis Medicinae
Lege Artis Medicinae
Lege Artis Medicinae
[Wilson’s disease is an autosomal recessive disease with toxic copper accumulation caused by the mutation of the ATP7B gene in chromosome 13. The estimated prevalence of the disease is 2-3 / 100000. Early diagnosis is important because the treatment may stop the progression and could result regression or it can prevent the clinical manifestation of the disease. In our case study we describe how difficult could be to diagnose the disease, the role of the family physician in the preparation for liver transplantation and in the follow-up care. This case is an example demonstrating that Wilson's disease is often diagnosed only years after the appearance of the first symptom. We review the most important literature data on Wilson’s disease. ]
Lege Artis Medicinae
[Alcoholic and drug induced liver diseases, nonalcoholic steatohepatitis, hepatitis C and B chronic hepatitis, autoimmune diseases (primary biliary cirrhosis, primary sclerosing cholangitis, autoimmune hepatitis) and metabolic disorders (hemochromatosis, Wilson's disease) are the main chronic liver diseases. Authors summarize, based on the latest literature data, the medications of chronic liver diseases, emphasizing the treatment of the everyday practice. Natural and synthetic antioxidants are approved for the treatment of chronic alcoholic liver diseases besides abstinence, with diet of adequate quality and quantity. Nucleoside analogues (lamivudin) are recommended for the first-line therapy of the treatment of chronic hepatitis B. Interferon is presently considered the optimal treatment for only certain patients. Interferon and ribavirin combined therapy is well-established in the treatment of chronic hepatitis C. Ursodeoxycholic acid is the beneficial treatment option for primary biliary cirrhosis and primary sclerosing cholangitis. Prednisolon and azathioprine constitute the basic therapy of autoimmune hepatitis. Presumably, in the future, new strategies based on immunosuppressive combinations will play a crucial role. The chelating deferoxamine has less important part in the treatment of hemochromatosis. D-penicillamine still plays principle role in the medication of Wilson's disease.]
Clinical Neuroscience
[Here we report two cases, where neuroleptic treatment provoked persistent akinetic-rigid symptoms resulting in the diagnosis of Wilson's disease. No liver function abnormalities suggested Wilson's disease in one of the cases. In both cases, the akinetic-rigid symptoms were originally attributed to side effects of neuroleptics, but symptoms persisted after discontinuation of treatment. In one of the cases, T2-weighted cranial MRI indicated bilateral hyperintense signals in the basal ganglia. Our cases suggest that in a subgroup of Wilson's disease, dopamin receptor antagonists may provoke akinetic-rigid neurological symptoms possibly due to the damage of dopaminergic neurons. Persistent akinetic-rigid side effects of neuroleptics in young patients thus require diagnostic tests to exclude Wilson's disease even in unsuspected cases.]
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