Child Cystic Fibrosis. Case Presentation

Cystic fibrosis is a multisystemic disease with an autosomal recessive transmission, being one of the most frequent genetic affection in pediatric pathology. The disease is produced by the mutation of the gene that encodes the protein which regulates the transmembrane conductance, having a large distribution in the epithelial cells of the respiratory tract, the gastro-intestinal tract, in sweat glands, but also in the urinary tract. The consequences are failure in evacuating the mucous secretions, a high level of salt in the glandular secretions, but as well as the others, a limited and chronic infection of the respiratory tract. The authors illustrate the clinical evolution of an infant with record of bronchial obstructive episodes. Further clinical symptoms, including the persistent infection with Pseudomonas Aeruginosa, correlated with other investigations, conclude with the diagnosis of cystic fibrosis. For favourable results in therapy, the authors underline the importance of the chronic therapy, which aims at the improvement of the clearance in mucous secretion, controlling the infection, maintaining an optimal state of nutrition, the treatment of complications, as well as psychological retaining of the patient and family. In conclusion, cystic fibrosis remains a severe illness, whose survival rate has risen in the past decade, thanks to progresses recorded in the genetic field and due to the complex approach regarding the therapy.