title: [Wilson's disease - a case report].
abstract: 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.
authors.affiliation: Faculty of Medicine L. Rydygier Collegium Medicum in Bydgoszcz Nicolaus Copernicus University in Toruń, Department of Infectious Diseases and Hepatology.
authors.forename: Kornelia
authors.initials: K
authors.lastname: Karwowska
authors.affiliation: T. Browicz Hospital of Infectious Disease in Bydgoszcz.
authors.forename: Julita
authors.initials: J
authors.lastname: Skrzypek
authors.affiliation: Institute of Psychiatry and Neurology in Warsaw, Second Department of Neurology.
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Chabik
authors.affiliation: Institute of Psychiatry and Neurology in Warsaw, Second Department of Neurology; Medical University of Warsaw in Warsaw, Department of Experimental and Clinical Pharmacology.
authors.forename: Anna
authors.initials: A
authors.lastname: Członkowska
authors.affiliation: 10th Military Hospital In Bydgoszcz, Department of Neurology.
authors.forename: Marzena
authors.initials: M
authors.lastname: Zaborowska
authors.affiliation: 10th Military Hospital In Bydgoszcz, Department of Neurology.
authors.forename: Sławomir
authors.initials: S
authors.lastname: Wawrzyniak
mesh_terms: D000251:Adenosine Triphosphatases / Q000032:analysis / Q000235:genetics; D000328:Adult; D001927:Brain Diseases / Q000175:diagnosis* / Q000188:drug therapy*; D027682:Cation Transport Proteins / Q000032:analysis / Q000235:genetics; D003300:Copper / Q000378:metabolism*; D000073840:Copper-Transporting ATPases; D020536:Enzyme Activators / Q000627:therapeutic use*; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000188:drug therapy* / Q000235:genetics; D006801:Humans; D008099:Liver / Q000378:metabolism*; D008297:Male; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D027682:Cation Transport Proteins; D020536:Enzyme Activators; D003300:Copper; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases
keywords: Wilson's disease; copper; liver cirrhosis