Objective. To study the features of liver cirrhosis (LC) in patients with cystic fibrosis (CF) and the course of the disease after liver transplantation according to the 2019 registry. Materials and methods. We analyzed the data of 3111 patients with recorded data on the state of the liver in the register of 2019 in age groups: children under 18, children from 9 to 18, adults. LC was diagnosed in 190 patients, including 121 (63.7%) with LC with portal hypertension. LC was more often recorded in the male group – 62.4% (p = 0.015). The age at diagnosis in the group of children with LC was higher – 0.7 (2.5) years, than in the group without liver damage – 0.2 (0.8) years (p = 0.01). "Severe" mutations were characteristic of patients with LC and hypertension in all age groups. The body mass index of children (aged 2–18 years) in the group with LC with hypertension was Me = 21.5 (42.3), and in the group without liver damage Me = 29.8 (49.3), p = 0.008. Chronic colonization of the respiratory tract by Pseudomonas aeruginosa in the group of patients with LC and hypertension was more common than in children without liver damage (46.2% versus 24.4%, p < 0.001). By 2019, 12 patients have received liver transplantation. After liver transplantation, in the first three years, there is an increase in function of external respiration and nutritional status of patients. Conclusion. LP with portal hypertension is more common in children aged 9–18 years, patients are characterized by a predominance of males, "severe genotypes", low indices of physical development, a high frequency of pathogenic microbial agents of the respiratory tract and complications, which leads to a significant reduction in life. Key words: genotype, cystic fibrosis, nutritional status, portal hypertension, liver transplantation, lung function, cirrhosis

Primary ciliary dyskinesia (PCD) (Online Mendelian Inheritance in Man - OMIM - #242650) is a rare hereditary disease, which is based on a defect in the ultrastructure of the cilia epithelium of the respiratory tract which leads to the motor function disorder. Data about health characteristics of patients with PCD in the Russian Federation are incomplete.The aim of the study was to investigate the clinical, laboratory, and instrumental characteristics of patients with PCD.Methods. The data of 90 patients (22 adults (24.4%) and 68 children (75.6%)) from several medical centers were studied. The following methods were used: medical history, spirometry, microbiological examination of the respiratory tract, video microscopic analysis of the functional activity of the nasal mucosa ciliated epithelium, transmission electron microscopy of the ciliated epithelium, and DNA testing.Results. The median age at diagnosis was 17.0 years for adults and 5.0 years for children. Kartagener syndrome was detected in 23 (27%) people, including 6 (26.0%) adults. Hearing loss was noted in 5 (26.3%) adult patients and 15 (26.8%) children. Light microscopy of the ciliated epithelium was performed in 14 (82.3%) children and 3 (17.7%) adults. In 12 patients, cilia motor activity was not registered at each of the magnifications (x 100, x 400, x 1,000). Transmission electron microscopy showed that absence ofinternal and external dynein handles (51%) and absence of internal dynein handles (17.9%) were the most common disorders. DNA testing was performed in 55 (61.2%) patients: 16 (29.1%) adults and 38 (70.9%) children. The most common genetic variants were found in the DNAH5 and HYDIN genes. Lung function was reduced in both adults and children, but a significant decrease was noted in adult patients. P. aeruginosa predominated in the culture and accounted for 21.3% (intermittent detection in 13.2%, persistent detection in 9%). It has increased resistance to antibiotics.Conclusion. The results correlate with the European data. Infection caused by P. aeruginosa with the increased resistance to antibiotics was prevalent in patienths with PCD.

Diagnosis, treatment, and follow-up of children with cystic fibrosis and pulmonary mycobacteriosis pose a challenge due to lack of scientifically justified clinical recommendations on patient management. The article provides two clinical observations, illustrating a personalized approach to administration of antibacterial therapy to children with cystic fibrosis and bronchopulmonary comorbidity caused by nontuberculous mycobacteria. Clinical, microbiological, and radiological study results were interpreted to define treatment tactics. Key words: children, cystic fibrosis, pulmonary mycobacteriosis, nontuberculous mycobacteria

Increasing the life expectancy of patients with CF is an urgent healthcare task all over the world. According to the Register of patients with cystic fibrosis in the Russian Federation (2020), the number of patients over 18 years of age is 26.5%. Assumably, cystic fibrosis can be used as a model of accelerated aging to study the aging process in general.Aim of the study was to analyze the number of rDNA copies in a sample of cystic fibrosis patients at different ages and with lethal outcome in relation to lung function, complications, and respiratory tract infections.Methods. We studied DNA samples isolated by the standard method from peripheral blood leukocytes of 277 patients diagnosed with cystic fibrosis. 998 DNA samples from healthy volunteers were used as a control group.Results. The study showed that the genomes of patients with CF contain more rDNA copies than those of control patients. The greatest number of copies of ribosomal genes was observed in DNA samples from deceased patients (p < 0.001) and was associated with more severe disease course. Among all CF patients, the largest number of rDNA copies in the genome was registered in patients with the lowest FEV1 values (less than 40%). It was found that patients with chronic Burkholderia cepacia complex infection had a significantly higher number of copies of ribosomal repeats than the total sample (p = 0.001) and the adults (p = 0.014). The number of ribosomal repeats did not differ between patients with other chronic respiratory tract infections.Conclusion. In the group of deceased patients, the patients with low respiratory function and Burkholderia cepacia complex infection had the highest number of rDNA copies in the genome, and the differences were significant. It can be assumed that the number of rDNA copies in the genome of CF patients is an additional prognostic marker that is associated with the patient’s life expectancy.

The pancreas is one of the main organs affected by the dysfunction of the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Pancreatitis can be a symptom of cystic fibrosis (CF) or a CFTR-related disorder. Genetic variants of the CFTR gene causing CF or having varying clinical significance are observed in 32–48% of patients. Approximately 20% of patients with mild genotypes are expected to develop pancreatitis. We report three cases of pancreatitis in children with CF and preserved pancreatic function. We focus on the challenges associated with the assessment of pancreatic insufficiency grade, suffering of children with recurrent acute and chronic pancreatitis, difficulties associated with the diagnosis and interpretation of laboratory parameters, problems of prognosis of pancreatitis development and progression in patients with pathogenic variants of the CFTR gene. Patients with mild pathogenic variants of the CFTR gene can have their pancreatic elastase-1 level reduced over time, which necessitates its annual monitoring. Patients with mild pathogenic variants should be routinely tested for pancreatic amylase, lipase, and diastase; and undergo examination using visualization methods. All CF patients require complete genotype verification to identify those with a mild genotype. Patients with recurrent pancreatitis should be checked for heterozygous pathogenic variants of the CFTR gene or CF verification. Key words: CFTR gene, cystic fibrosis, mild genotype, pancreas, pancreatitis, pancreatic elastase