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.
Most often, acute appendicitis occurs in premature babies. The mortality rate from neonatal acute appendicitis in 2000 was 25-28%. Most often, the cause of inflammation of the appendix in newborns is a local form of necrotizing enterocolitis. Purpose - is to provide up-to-date information and to familiarise a wide range of medical professionals with the current issues of diagnosis and treatment of acute appendicitis in newborns. Acute appendicitis in newborns has a similar course to necrotizing enterocolitis. However, it should be noted that treatment tactics for these diseases are different. Necrotic enterocolitis in the absence of perforation and peritonitis is treated with conservative methods, while appendicitis is treated surgically in all cases. Ultrasound diagnosis has an advantage over computed tomography because it does not have a radiation burden on the newborn, so it is recommended as the first line of diagnosis among other imaging methods. In the case of appendage perforation, an important method is inspection radiography and the search for free gas in the abdominal cavity (52% of appendage perforations are visualized by inspection roentgenography). Сonclusions. Due to the rare occurrence of acute appendicitis among newborns, doctors may be less wary of this pathology, which often causes significant changes in the child's body and is a frequent cause of septic conditions due to the rapid spread of the inflammatory process due to the anatomical and physiological characteristics of newborns. The speed of diagnosis and medical care, the correct determination of treatment tactics directly reduces the frequency and severity of postoperative complications, including purulent inflammatory diseases of the abdominal cavity and abdominal wall, as well as adhesive disease and adhesive intestinal obstruction in the first place. No conflict of interests was declared by the authors.
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