Cystic fibrosis

Cystic fibrosis (CF) is the most common life-limiting autosomal recessive condition in Caucasians. It is caused by a mutation in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Early detection of CF, improvements in management, multidisciplinary care in specialist CF centres and new treatments have seen survival rates improve in recent decades. CF is a multisystem disease with a predilection for the lungs and digestive tract. Chronic lung infection and airway inflammation lead to bronchiectasis, progressive airflow obstruction and ultimately death from respiratory failure in the majority of patients. Treatment of acute and chronic lung infection, optimization of nutritional status and management of CF-related complications such as diabetes form the basis of disease management. New therapies known as CFTR modulators that target specific mutations of the CF gene are now available. Ivacaftor, the first drug licensed for individuals with class 3 mutations, is associated with improvements in lung function and weight, and a reduction in frequency of exacerbations. More recently, the combination therapy ivacaftor–lumacaftor for patients homozygous for the Phe508del mutation has been given approval in the USA. A number of other therapies that target both the underlying genetic defect and established disease are in the pipeline.