Clinical features: An inherited condition of the exocrine (externally secreting) glands, most commonly presenting during early childhood. It affects the pancreas, respiratory system and sweat glands, and is characterised by the production of abnormally thick mucus by the affected glands. This results in failure to thrive, chronic respiratory infections and impaired pancreatic function. Newborns may present with meconium ileus (obstructed bowel due to impacted, tenacious meconium). Male infertility is usual, females have reduced fertility.
Incidence: Approximately 1 in 2,000 in Northern European, with a carrier frequency of 1 in 22. The condition is less common elsewhere.
Inheritance : Autosomal recessive.
Gene: Cystic fibrosis transmembrane conductance regulator gene (CFTR) on chromosome 7. More than 1 000 mutations have been identified, the commonest known as Delta-F508 (technically now known as C.1521_1523 delCTT:p Phe 508 del) is present in approximately 76% of carriers in the UK.
Prenatal diagnosis: Usually. Please refer to your local clinical genetics service prior to a pregnancy. This enables the family to be given appropriate advice and ensures that appropriate investigations are undertaken to confirm that prenatal diagnosis is possible.
Carrier testing : Possible, if mutations identified an affected family member.
UK Support Group: Cystic Fibrosis Trust 11 London Road Bromley Kent BR1 1BY Tel: 020 8464 7211 Fax: 020 8313 0472 Web: www.cftrust.org.uk
If you would like further information on cystic fibrosis please go to either:-
The Least You Need to Know Coffee Break Summary Pitfalls to Avoid Find Out More Clinical Scenarios at Genepool - Cystic fibrosis
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