DISEASE AND CAROLI SYNDROME: LITERATURE REVIEW AND OWN CASE STUDY OF CAROLI SYNDROME IN A CHILD RESULTING IN SUCCESSFUL LIVER TRANSPLANTATION

Аннотация

The purpose of the presentation: A review of domestic and foreign literature on Karoli's disease and syndrome is presented. The review includes a historical background and a modern look at the etiology and pathogenesis of the disease, its place among fibrocystic liver diseases. Demonstration of a clinical case of Karoli syndrome in a child observed by the authors from birth. The disease was manifested by congenital cystic transformation of the kidney. Hepatic pathology was detected at the age of 5 years, followed by rapid progression of liver damage with the development of severe complications: cirrhosis of the liver, portal hypertension, edematous syndrome, hepatic encephalopathy. At the age of 11, the patient successfully underwent orthotopic liver transplantation. The main provisions. Karoli's disease is a rare genetic pathology, characterized by a wide clinical and morphological polymorphism from severe variants with fibrosis in the neonatal period to cases with manifestation at a late age. The genetic causes of pathology have been studied, in particular, mutations associated with autosomal recessive and autosomal dominant forms of polycystic kidney disease. The large number of described mutations and the predominance of complex heterozygotes among patients explains the diversity of clinical forms of pathology. The relationship between genotype and phenotypic variants of pathology has not been determined. In Karoli's disease, in addition to cystic changes in the liver and kidneys, there may be damage to other organs and systems, in particular cerebral vessels. Cases of combination with various genetic diseases are described. Conclusion. The presented case demonstrates the late detection of liver damage, its rapid progression. Despite the presence of severe complications, liver transplantation was successful and the patient is currently in a stable condition compensated for all functions.