Cystic Fibrosis

Cystic fibrosis is the most common autosomal genetic disorder in Caucasian populations. Its principal effect is on the secretions from exocrine glands, resulting in mucosal obstruction of the airways, chronic lung disease, excessive sweating resulting in salt imbalances, and severe disorders of the pancreas. 50 years ago, CF patients typically died in their first year, but treatment has steadily improved so that many survive into adulthood, and some CF patients now have children of their own. Considerable progress has been made by scientists working to understand the defect, which is thought to be caused by a single mutant gene located on chromosome 7. Prenatal diagnosis can be offered to families known to be at risk, and may soon be available to the wider population. There are working hypotheses as to how the basic defect causes its widespread effects. This volume contains a series of essays which summarize modern medical practice and survey the results of recent clinical research in cystic fibrosis. Written for biologists, geneticists and clinicians, particularly in paediatrics, it explores the medical genetics and outlines future research.