Karoli syndrome: a clinical case

Aim . Description of a clinical case of a rare genetic disease in a patient with Caroli C syndrome. Methods . The paper presents data from the clinical history of the disease, data from laboratory and radiation research methods, and an analysis of the diagnostic path that led to the diagnosis of Carli syndrome in a patient who was treated at the Republican Clinical Hospital of the Ministry of Health of the Republic of Tatarstan. Results . Consideration of this clinical case allows us to define a step-by-step diagnostic algorithm that led to the diagnosis of Caroli syndrome. When choosing treatment methods, the team of authors came to the conclusion that there is no single treatment concept and decided on symptomatic therapy for this nosology. The patient was discharged 10 days after the start of treatment in a satisfactory condition. The peculiarities of this clinical case include the late onset of the disease. Conclusion. Due to the extremely narrow degree of prevalence, the diagnosis of Caroli syndrome is a complex clinical task in patients with symptoms of cholangitis, cholangiolithiasis, mechanical jaundice, cholestatic variant of viral hepatitis B. The diagnostic search consists of many stages and requires the joint participation of specialists of different profiles. To date, there are only symptomatic treatment methods for Caroli syndrome, the only etiologically significant method of treating these patients is orthotopic liver transplantation.