Cystic fibrosis: current concepts.

Cystic fibrosis of the pancreas, the most frequently inherited disease affecting the Caucasian population, is an autosomal recessive disorder affecting principally the exocrine glands. It is of interest that despite the steadily increasing number of cellular and biochemical abnormalities reported in the disease even the most intrepid investigator has stopped short (sometimes only just) of staking claim to having identified the primary defect. Reported abnormalities include increased intracellular glycogen (Pallavicini et al, 1970), decreased collagen synthesis, and collagenolysis (Houck and Sharma, 1970). Disturbances in RNA methylation (Rennert, Julius, and LaPointe, 1972), serum kallikrein-like activity (Arvanitakis et al, 1973), serum hexosaminidase (Conover, Conod, and Hirschhomr, 1973a), and arginine esterase (Rao and Nadler, 1974) have also been described. Since the disease is clearly inherited in a simple recessive fashion, it is genetically certain that the many reported biological perturbations are secondary effects which will be fully understandable only when the primary, presumably enzymatic, defect is disclosed (Beam., 1973a).