ABSTRACT
Cystic fibrosis (CF) is the most common lethal inherited disease in the Caucasian population. The principal clinical problem of CF is lung damage and respiratory failure as a result of bacterial colonization and recurrent chest infections. The relationship between alterations in the function of cystic fibrosis transmembrane regulator and the pathology of CF is only poorly understood and the matter of a great deal of speculation. Transgenic CF mice, which have been generated by a number of laboratories, are now being used in the assessment of gene transfer systems. The baseline potential difference principally relates to sodium transport and this, as well as the response to subsequent perfusion of the sodium-channel blocker amiloride, provides an index of increased sodium transport in CF patients. The human lipase cDNA has been transferred in vivo to the gallbladder in an attempt to assess the feasibility of in vivo gene therapy for exocrine pancreatic insufficiency in CF.
