МОРФОЛОГИЧЕСКИЕ ИЗМЕНЕНИЯ В ПЕЧЕНИ ПРИ МУКОВИСЦИДОЗЕ У ДЕТЕЙ

Abstract

Background. Cystic fibrosis (CF) is an autosomal recessive disease caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, characterized by damage to vital organs, a severe course and an unfavorable outcome. Liver cirrhosis is a relatively rare manifestation of cystic fibrosis. Objective. To study the causes of death, hepatic morphological changes in CF according to autopsy data and to present a description of a case of CF with rapidly progressing liver cirrhosis in a 6-year-old child. Material and methods. An analysis of clinical, laboratory and instrumental studies of CF and the results of hepatic morphological changes was carried out according to the data of 10 autopsies performed at the State Healthcare Institution "GRCPB". Results. Among the 10 patients died from a mixed form of CF, there were 5 patients aged 1-3 months, 2 patients aged 1.5 years, 1 patient aged 4.5 years, 1 patient aged 6 years and 1 patient was 19 years old. Infant patients had predominant intestinal damage with the development of intestinal obstruction and peritonitis, older age groups had lung damage with the development of chronic pulmonary heart disease, chronic pulmonary heart failure, and to a lesser extent - pathology of the pancreas and gastrointestinal tract. In one 6-year-old patient, CF was complicated by diabetes mellitus as well as liver cirrhosis with portal hypertension. All patients had severe protein-energy deficiency, psychosomatic and psychopathological symptoms. The results of pathohistological examination of the liver of infant patients showed dilation of the interlobular bile ducts with cholestasis and periductal fibrosis. The severity of these liver changes increased gradually alongside with patients’ age, including the progression of fatty degeneration. In a number of cases, diffuse fibrosis was recorded, resulting in liver cirrhosis with portal hypertension. At autopsy, the extrahepatic bile ducts and gallbladder were dilated and filled with bile of a viscous consistency. Conclusions. The nature of hepatic morphological changes in CF depends on the age of the patients and on the influence of exogenous factors. Only timely diagnosis and early complex therapy for CF will reduce the progression of irreversible processes in various organs and prolong the life of patients.