Pathophysiological aspects of cystic fibrosis : genotypes, phenotypes and intestinal current measurements

Cystic fibrosis (CF). is one of the commonest life-threatening autosomal recessive hereditary disease, predominantly affecting Caucasian populations. It is listed under number 219700 in McKusick's Mendelian Inheritance in Man and on Internet's Online Mendelian Inheritance in Man. In the Netherlands one in every 3600 newborns is affected by the disease. The disease is characterized by production of abnormally viscid secretions in epithelial tissues. The different organs involved such as lungs, pancreas, and liver are progressively damaged owing to obstructing mucoid plugs. The clinical manifestations of the disease and consequently the life expectancy range widely. The average life span has increased in the last decade to an age of almost 30 years. It is to be expected that newly diagnosed CF patients will have a better prognosis as a result of more aggressive therapy and preventive measures. Especially, improvement of treatment of meconium ileus, more effective antibiotic regimes, care for optimal nutritional status, and the formation of multidisciplinary teams of CF specialists have contributed in this respect.