Diagnosing cystic fibrosis in patients with non-diagnostic results: the case for intestinal current measurements.

摘要

Cystic fibrosis (CF) is a well-described genetic disease with characteristic defects in ion transport in disease-affected tissues. CF results from dysfunction of the cystic fibrosis transmembrane conductance regulator protein (CFTR) which is an ATP binding cassette protein that, in addition to chloride channel function, regulates other ion transport pathways such as sodium channels, other chloride channels and bicarbonate transport.