PECULIARITIES OF CYSTIC FIBROSIS IN NEWBORN ON THE EXAMPLE OF A CLINICAL CASE

Abstract

Cystic fibrosis is a severe genetic disease, which is inherited in an autosomal recessive manner and is characterized by a polyorganic clinical presentation with predominantly exocrine, respiratory and digestive gland involvement. Every year more than 45 000 children are born worldwide with this genetic disease. According to official statistics, 674 children with cystic fibrosis are registered in Ukraine, 25 of them in the Vinnytsia region. The disease is caused by a mutation in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). The F508del mutation is most common in the paediatric population (19-34%). The most common clinical manifestations of cystic fibrosis in newborns are disorders of the gastrointestinal tract, pancreas, hepatobiliary system and respiratory system. In 20% of newborns, one of the earliest manifestations of cystic fibrosis is meconial ileus, which may pose a risk of complications such as meconium peritonitis, sputum, gangrene or intestinal necrosis. Early diagnosis with neonatal screening, improved care for the neonatal manifestations of meconial ileus and adequate medical follow-up by a multidisciplinary team of specialists, and improved lifelong replacement fermentation therapy have a significant impact on the life expectancy of patients with cystic fibrosis.This article presents a clinical case of early diagnosis of cystic fibrosis in a newborn. When meconial ileus is present and cysticfibrosis is suspected in a newborn, early genetic diagnosis is mandatory, in addition to timely and correctly performed neonatal screening. Comprehensive and timely treatment leads to improvement in cystic fibrosis patients and slows down the development of pathological changes in the bronchopulmonary and hepatobiliary systems.Conclusions. Prevention of a severe course of cystic fibrosis is in early detection of the disease during neonatal screening, indiagnosis at the first signs of the disease and early start of pathogenetic treatment, which improves the quality of life of patients.