Cystic fibrosis: genetics and intestinal secretion

Abstract

The identification of the cystic fibrosis (CF) gene and within that gene the most frequent mutation is of major importance. The genotype/phenotype relationships in large study populations give a better insight in the clinical variability of CF. Variability between different CF patients is also detected in the intestinal chloride secretion capacity. Further research might be of value for a better understanding of the pathophysiological basis of the clinical heterogeneity in this disease. Diagnostic difficulties are present now that CF patients are being diagnosed with normal sweat chloride levels and the diagnostic value of mutation analysis fails in most of these atypical patients.