Cystic fibrosis.Clinical observation

Abstract

Cystic fibrosis, also called mucoviscidosis, formerly cystic fibrosis of the pancreas, an inhe-rited metabolic disorder, the chief symptom of which is the production of a thick, stic-ky mucus that clogs the respiratory tract and the gastrointestinal tract. CF is inherited in an autosomal recessive manner. Long-term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections.Symptoms of the disease occur in 70% of cases in the first two years of life.The first sign of cystic fibrosis is meconial intestinal obstruction in 30-40% of newborns.In many countries, the inclusion of the disease in the neonatal screening program has helped to diagnose earlier and prevent complications, albeit partially.We retrospectively examined themedical history of 33 patientswith cystic fibrosis who were treated in Scientific Research Institute of Pediatrics between 2015 and 2020 years. The youngest of the patients was 3 hours old, and the oldest was 7 months old. 30 (91%) patients had pneumonia, 28 (84.8%)-grade III hypotrophy, and 26 (78.7%) - anemia.5 (15.1%) patients had a meconial ileum during the neonatal period. The diagnosis was initially made based on clinical signs and sweat analysis. The disease was confirmed by genetic analysis in 5 (15.1%) patients.14 (42.4%) children were born from cousin marriages 9 (27.2%) patients re-applied for treatment. In the anamnesis of 7 (21.2%) children, the death of other children in the family was recorded. In 13 (39.3%) patients, the parents took the child home, refusing treatment and examination.