A clinical case report of cystic fibrosis and liver cirrhosis in a child [] / V. A. Klymenko [et al.] // Запорож. мед. журн. - 2018. - Том 20, N 5. - С. 739-742 MeSH-главная: КИСТОЗНЫЙ ФИБРОЗ -- CYSTIC FIBROSIS (осложнения) ЦИРРОЗЫ ПЕЧЕНИ -- LIVER CIRRHOSIS (осложнения) КАЧЕСТВО ЖИЗНИ -- QUALITY OF LIFE ДЕТИ -- CHILD Аннотация: Purpose. To analyze the history of a child with cystic fibrosis (CF) and liver cirrhosis. Results of research. This clinical case report demonstrates the course of CF in a patient with a severe CFTR mutation delF508. The disease had severe course, mostly due to hepato-renal disorders. From birth the child had a poor appetite, insufficient weight gain. A cough bothered the child from age of three months, and then pneumonia was diagnosed with a protracted course. CF was diagnosed by positive sweat chloride test (85/107 mmol/L) and clinical manifestations at the age of eight months. CFTR mutation delF508 was found during genetic testing. The patient had chronic airways colonization with S. aureus and P. aeruginosa. At 1 year of age the child was infected by S. aureus, at 6 year of age – P. aeruginosa. The child received pathogenetic treatment including inhaled antibiotic therapy (tobramycin, colistin). The child constantly received the replacement enzyme therapy, hepatoprotective drugs and multivitamins. Antibiotic therapy was prescribed only for bronchopulmonary exacerbation. At 8 years of age the biliary cirrhosis, portal hypertension and splenomegaly (+ 6.0 cm) were found. Type 1 diabetes mellitus was diagnosed at 9 years of age. The child's condition worsened progressively mostly due to hepato-renal disorders. The child needed permanent hospital care. The last patient’s hospitalization lasted for 85 bed-days, including 52 days in the Department of Anesthesiology and Intensive Care because of the condition worsening due to multiple organ dysfunction syndrome that caused death at 17 years of age. Conclusions. This clinical case report demonstrates the course and outcomes of cystic fibrosis with severe CFTR mutation delF508 and cirrhosis. Доп.точки доступа: Klymenko, V. A.; Piontkovska, O. V.; Pasichnyk, O. V.; Drobova, N. M.; Yanovska, K. O.; Bevz, S. I. ; Sindieieva, N. T. Экз-ры: