WILSONKONOVALOV DISEASE Wilson-Konovalov disease is a congenital disorder of copper metabolism, leading to severe hereditary diseases of the central nervous system and internal organs. HISTORY OF DISEASE English neurologist Samuel Wilson – “progressive lenticular degeneration” (1912) Soviet neurologist Nikolai Vasilyevich “hepatocerebral dystrophy” (1960) Konovalov – THE REASONS The main cause of the Wilson — Konovalov disease is a mutation of a gene called ATP7B, which is responsible for the incorporation of copper ions into the ceruloplasmin protein. This gene is inherited in an autosomal recessive type. THE SYMTOMPS 1.Liver 2. Nervous system 3. Kidneys 4. Eyes 5. Bones 6. Heart DIAGNOSIS To clarify the damage degree and the form of the disease, MRI scans of the brain are used. A specific symptom of this disease on an MRI scan is a picture resembling the «face of a giant panda.» TREATMENT The treatment of Wilson — Konovalov disease can be divided into several areas: medication, diet therapy, surgical treatment, plasma filtration. The entire treatment period of Wilson — Konovalov disease can be divided into 2 phases: the initial phase and the phase of maintenance therapy. Wilson — Konovalov disease is a progressive disease and if left it untreated patients die from cirrhosis of the liver or from infectious and toxic complications.
