Definition: disease characterised by
recurrent respiratory tract infection and pancreatic insufficiency.
1 in 2000 live births. Commonest potentially lethal autosomal
Clinical features. Abnormal sweat chloride test on two occasions
(may be normal!).
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.
Neonate/infant presents with
- meconium ileus
- failure to thrive
- respiratory tract infection
(may be misdiagnosed as asthma or whooping cough)
- Malabsorption (and Vit A, D deficiency)
- Distal intestinal obstruction syndrome ?pathogenesis
- Diabetes (1 in 10). 1 in 2 develop impaired glucose tolerance.
- 2° amyloidosis.
Manage in a cystic fibrosis centre.
- Pancreatic enzymes, supplement Vit A, D.
- Respiratory tract infection:
- Prophylactic flucloxacillin, nebulised colistin
- Early antibiotics
- Pseudomonas: quinolones, nebulised colomycin.
- Portacath (completely buried venous port)
- DNA-ase to liquefy sputum, postural drainage
- heart-lung transplant (50% survival at 5 year).
Obliterative bronchiolitis affect 1 in 5 after first year (fatal).
1993: 50% alive at 25 years.
Today (2000): probably survive beyond 40 years.
Colonisation by Pseudomonas and Burkholdia cepacia
5 November 2000