Via practica 3/2007
CYSTIC FIBROSIS
Cystic fibrosis is genetically inherited multiorgan disorder; prevalence among Caucasians is 1:2500 live-birth children. Mean age of survival has risen since discovery of CF gene located on the 7th chromosome and its product – c-AMP chloride channel (CFTR – Cystic fibrosis transmembrane conductance regulator). CFTR is located on epithelial cells of airways, pancreas, liver, bowel, sweat glands a vas deferens. Therapy of future is based on gene therapy, “channel repairing” molecules such as chaperons. Standard symptomatic therapy has improved length and quality of life as well.
Keywords: cystic fibrosis gene, CFTR (Cystic Fibrosis Transmembrane Conductance Regulator), modifiers genes, bronchopulmonary impairment, malabsorption, symptomatic and causal therapy.
