- Cystic fibrosis is the commonest inherited disease in white populations, with an incidence of 1 in 2500 newborns; over 7000 people in the United Kingdom currently have the disease
- Until recently, the diagnosis has been largely clinical, although the widespread implementation of a screening programme for newborns is now complete in the UK
- Cystic fibrosis is a multiorgan disease best managed in a multidisciplinary setting in conjunction with a specialist centre for cystic fibrosis, with treatment tailored to the individual
- The cornerstones of management are proactive treatment of airway infection and encouragement of good nutrition and an active lifestyle
- Conventional treatment has improved greatly over the past few decades; however, current treatments at best slow the decline in lung function. Newer approaches such as gene and small molecule based treatments may have more potential to halt disease progression
Over 7000 people have cystic fibrosis in the United Kingdom. It is the commonest genetically inherited disease in white populations (1 in 2500 newborns), although it is increasingly recognised as being important in non-white populations. However, most general practitioners have only one or two patients on their list, and as management generally takes place in specialist centres, many general paediatricians will be involved in the care of only a small number of patients.
Progress in our understanding of the disease and the impact of this on management has been rapid over the past 20 years. Cystic fibrosis used to be a digestive and lung disease of young children but more recently has become a complex, multisystem disease extending into adulthood; there will soon be more adults than children with the condition. The predicted median survival for babies born in the 21st century is now more than 50 years.1 This increased survival—together with changes in standard treatment, the increasing implementation of newborn screening, and the focus on new therapeutic strategies—leads us to consider that an update on this albeit relatively rare disease may be of general interest.