Sequelae of delayed cystic fibrosis diagnosis in the 8-year-old child

Abstract

cystic fibrosis is a chronic, genetic, systemic disease, the pathogenesis of which is based on a defect in the apical transporter of chlorine ions, which leads to pathological thickening of mucus and its accumulation in the lumen of hollow organs, mainly bronchi, pancreas and others. Among genetic diseases, cystic fibrosis is quite common. In this regard, since 2007 in the territory of the russian Federation, all newborns are screened for cystic fibrosis. neonatal screening makes it possible to establish a diagnosis at an early stage, which significantly improves the further prognosis. However, not all patients manage to confirm the diagnosis from birth. This clinical case shows how late diagnosis of the disease leads to the development of severe complications and deterioration of the prognosis.

Keywords

• cystic fibrosis
• complications
• children.