Difficulties of diagnostics and treatment of Wilson-Konovalov disease

Abstract

The article focuses on the discussion of diagnostics and treatment of Wilson-Konovalov disease (WKD) a rare progressive hereditary condition resulting from anomalous copper release that leads to its excessive accumulation in the tissues and combined lesions of parenchymatous organs (in the first place, liver) and brain. It most frequently diagnosed at the age of 5-40 years in association with manifestations of liver damage and neuropsychiatric symptoms. Sometimes, the disease occurs in subjects aged above 60 years. WKD is characterized by a variety of clinical manifestations and multi-organ lesions responsible for pathological conditions of the cardiovascular, endocrine, locomotor, hematological, digestive systems and kidneys. The main target organs are liver and brain. A most serious problem is late diagnostic of WKD at the stages with irreversible changes and liver cirrhosis. A case of WKD is reported presenting a classical example of this condition that manifested itself at a young age at the stage of cirrhosis which excluded reversal of the pathological process and thereby accounted for the unfavourable prognosis. The difficulty of WKD therapy is discussed in relation to the risk of side effects of D-penicillamine, the drug of choice, for the management of WKD.