Wilson-Konovalov disease. MCSC patient history
NewsPatient A., 19 years old, turned to the MCSC gastroenterologist for a consultation.
- He was worried about a noticeable weakness and increased fatigue.
He also told the doctor that he had been examined in 2016, and the doctors found an increase in liver enzymes in the tests. At the same time, he felt good, did not undergo treatment, he was only recommended to be observed in a polyclinic.
But after a few years, he developed weakness, began to get tired quickly and turned to the doctor again.
- The examination showed: increased activity of liver enzymes, on ultrasound – fatty hepatosis, but doctors ruled out viral hepatitis.Doctors of the department of liver diseases conducted a comprehensive examination, according to the results of which they found severe liver fibrosis in the patient, took a biopsy.
- But they paid special attention to laboratory parameters: a strongly elevated copper content, and a reduced ceruloplasmin protein (which binds copper).Such a picture indicated unspecified hepatitis, but the doctors additionally performed a molecular genetic analysis, which made it possible to make an accurate diagnosis - the patient has Wilson-Konovalov disease.
Wilson-Konovalov disease (hepatolenticular degeneration) is a rare hereditary disease in which defective excretion of copper with bile leads to its accumulation, in particular in the liver.
It is associated with mutations of the ATP7B gene.In the occurrence and development of this disease, a leading role is played by a imbalance between the intake and release of copper.
In most patients, it appears at a young age and proceeds without symptoms.However, today hepatologists consider any liver disease of unknown origin as Wilson-Konovalov disease, until the opposite has been proven.
- Doctors were able to find an effective treatment for our patient, his condition immediately improved, laboratory parameters returned to normal.
Today he is regularly examined at the MCSC, the disease is not progressing.
