Cystic Fibrosis: Present and Future

• Published in: Digestion Vol. 59; no. 5; pp. 579 - 588
• Main Author: Milla, P.J.
• Format: Journal Article Conference Proceeding
• Language: English
• Published: Basel, Switzerland Karger 01.08.1998; S. Karger AG
• Subjects: Biological and medical sciences; Chromosome Aberrations - genetics; Chromosome Disorders; Chromosomes, Human, Pair 7; Cystic Fibrosis - diagnosis; Cystic Fibrosis - genetics; Cystic Fibrosis - therapy; Diagnosis, Differential; Gastroenterology. Liver. Pancreas. Abdomen; Genetic Therapy; Genotype; Humans; Liver Transplantation; Liver. Biliary tract. Portal circulation. Exocrine pancreas; Lung Transplantation; Medical sciences; Nutritional Support; Other diseases. Semiology; United Kingdom; Europe; Nutrition; Fibrosing; Colonopathy; Cystic fibrosis; Genotype; Transplantation; Gene therapy; Human; Respiratory disease; Indication; Metabolic diseases; Homotransplantation; Genetic determinism; Genetic disease; Surgery; Risk factor; Digestive diseases; Complication; Clinical trial; Clinical investigation; Diagnosis; Molecular biology; Child; Pancreatic disease
• ISSN: 0012-2823; 1421-9867
• DOI: 10.1159/000007533

Cystic fibrosis (CF) is an inherited disorder of epithelial chloride transport affecting primarily pancreas, lungs, gut, liver and exocrine glands. The defect is caused by defects of the cystic fibrosis transmembrane regulation gene on chromosome 7. Genotyping has proved useful in identifying gene carriers, a definitive diagnosis, and in antenatal diagnosis. Genotype/phenotype relationships have shown that the commonest cause of pancreatic insufficiency is the D F508 mutation. Clinical trials are exploring the use of somatic gene therapy but this is not yet a viable treatment option. Liver, lung and intestinal disease result in malnutrition which causes further dysfunction of these organs. Aggressive nutritional and pancreatic enzyme therapy results in improved disease, normal growth and increased survival. However, high-dose enzyme therapy may in some individuals cause a fibrosing colonopathy. For those with end-stage liver and lung disease, transplantation holds out some hope.