[A remarkable case of diagnostic difficulties in chronic hepatic pathology caused by a metabolic disorder (Wilson's disease)--evaluation of medical management]. / Szczególny przypadek trudnosci diagnostycznych przewleklej patologii watroby uwarunkowanej zaburzeniami metabolicznymi w aspekcie--oceny prawidlowosci postepowania lekarskiego.

ABSTRACT

Wilson's disease is a rare genetic disorder. It is characterized by excessive copper deposits--mainly in parenchymal organs--leading to their damage and serious dysfunction. Because of its uncommonness, slow and insidious course and diversified clinical manifestation, diagnosing the condition is not easy, even for experienced physicians. As it is indicated by medical practice, such a situation may occur even in tertiary care centers, which have at their disposal extensive and highly specialist diagnostic tools and vast clinical experience in diagnosing such diseases. As an example, the authors present a case of a 38-year-old man, suffering from Wilson's disease, who was misdiagnosed and treated for another metabolic disease. Although the presented case was difficult and diagnostically complex, it should be emphasized that a diagnostic error led to inappropriate therapeutic decisions and in consequence delayed proper treatment.