[Wilson's disease - a case report]. / Choroba Wilsona - opis przypadku.

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.