Cystic fibrosis

Definition: disease characterised by recurrent respiratory tract infection and pancreatic insufficiency.

Incidence

1 in 2000 live births. Commonest potentially lethal autosomal recessive disorder.

Diagnosis

Clinical features. Abnormal sweat chloride test on two occasions (may be normal!).

Pathophysiology

Autosomal recessive. Chromosome 7. Mutation of CFTR gene (cystic fibrosis transmembrane regulator) which is a cAMP regulated chloride channel. Multiple mutations described, but commonest mutation among caucasians is ΔF508. 100% carriage in Faroe islands, 26% in Turkey.

Clinical features

Neonate/infant presents with

Complications

Management

Manage in a cystic fibrosis centre.

The future

Gene therapy?

Prognosis

1993: 50% alive at 25 years.
Today (2000): probably survive beyond 40 years.
Colonisation by Pseudomonas and Burkholdia cepacia worsens prognosis.

5 November 2000