Overview

Overview

• Prevalence: The most common inherited disorder in the UK, affecting ~1 in 2500 individuals. Approximately 10,800 people in the UK have CF.
• Survival: Median survival has significantly improved to over 40 years, but most cases (~6000 of 7500) are in individuals under 25 years of age.

Genetics

• A mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7 is crucial for salt and water movement across cell membranes.
• Results in thickened secretions affecting multiple organs.
• Inheritance: Autosomal recessive; 1 in 4 chance if both parents are carriers. About 1 in 25 adults in the UK carries the CF gene.
• It predominantly affects Caucasians and is rare among individuals of Afro-Caribbean origin.

Screening

• Pre-conceptual: Buccal smears to karyotype prospective parents.
• Antenatal: Chorionic villous sampling (~10 weeks) for at-risk families.
• Neonatal: Screening programs to detect early signs of CF.