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Pol. Merkur. Lek (Pol. Med. J.), 2016, XL/235: 028-031 Maximize

Pol. Merkur. Lek (Pol. Med. J.), 2016, XL/235: 028-031

Title: Wilson's disease – a case report 

Authors: Karwowska K1, Skrzypek J2, Chabik G3, Członkowska A3,4, Zaborowska M5, Wawrzyniak S5. 

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SUMMARY IN POLISH & ENGLISH. FULL ARTICLE ONLY IN POLISH.

Wilson's disease – a case report


Karwowska K1, Skrzypek J2, Chabik G3, Członkowska A3,4, Zaborowska M5, Wawrzyniak S5.

1Faculty of Medicine L. Rydygier Collegium Medicum in Bydgoszcz Nicolaus Copernicus University in Toruń, Department of Infectious Diseases and Hepatology; 2T. Browicz Hospital of Infectious Disease in Bydgoszcz; 3Institute of Psychiatry and Neurology in Warsaw, Second Department of Neurology; 4Medical University of Warsaw in Warsaw, Department of Experimental and Clinical Pharmacology; 510th Military Hospital In Bydgoszcz, Department of Neurology

Wilson's disease (WD) or hepatolenticular degeneration, is a rare autosomal recessive genetic disorder caused by mutations in the Wilson disease protein (ATP7B) gene. It is characterized by impaired copper metabolism leading to its accumulation in various tissues and organs, including the liver and central nervous system, this results in the development of characteristic liver disease and neuropsychiatric symptoms. Liver symptoms usually appear during first three decades of life, while psychiatric symptoms are observed in people who are in their twenties or older. WD is one of few genetic diseases that can be effectively treated with pharmacotherapy. However, some cases, especially diagnosed late in the course of the disease, may not respond well to treatment. Here we present a case of a 22-year-old male with neurological, psychiatric and liver disease symptoms as an example of diagnostic and therapeutic challenges in patients. Wilson's disease (WD) should be considered in all patients presenting with neurological, psychiatric and liver disease symptoms especially those of young age.

Key words: Wilson's disease, copper, liver cirrhosis

Pol Med J, 2016; XL (235); 28–31