[Pathogenesis and novel possibilities of diagnosis of cystic fibrosis]

Abstract

Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in cystic fibrosis transport regulator (CFTR) gene. The clinical picture is characterized mainly by: bronchopulmonary disease (BPD), exocrine pancreatic insufficiency, hepatobiliary disease, meconium ileus, malnutrition and congenital bilateral absence of vas deferens. Life-span is closely related to respiratory system status, thus making the treatment of the BPD the key element of the management of CF. BPD is characterized by progressive destruction of bronchopulmonary tissues. It is due to chronic inflammation which, in turn, is caused chronic colonization/infection by typical pathogens, such as Pseudomonas aeruginosa, Staphylococcus aureus and Burkholderia cepacia. The end stage of the BPD is respiratory insufficiency and death. The diagnosis of cystic fibrosis is based on the clinical picture, sweat chloride test, molecular analysis and measurement of nasal potential difference.