Cystic fibrosis

Cystic fibrosis (CF) is one of the most common autosomal recessive disorders associated with decreased longevity in the Caucasian population. The disease is classically described as a triad; chronic obstructive pulmonary disease, exocrine pancreatic insufficiency, and elevation of chloride concentration in sweat. The underlying pathophysiology involves abnormal ion transport due to dysfunction of the CF transmembrane conductance regulator (CFTR). Altered salt and water movement across epithelia interferes with the hydration and ionic composition of mucus secretions. Abnormal mucus impairs clearance and defense systems, leading to inflammation and destruction of the lungs, the pancreas, and the developing vas deferens in males. The development of bioavailable small molecules that augment CFTR function is revolutionizing the treatment of CF.