Cystic Fibrosis
V.common autosomal recessive disease ( ~1 in 2500)
Secretions high salt, low water leading to blocked glands and clogged mucosal surfaces
The Patient
Neonate : Meconium ileus
Child: Recurrent chest infections,
bronchiectasis,
pancreatic insufficiency (steatorrhoea, failure to thrive, good appetite)
Diabetes Mellitus
Distal intestinal obstruction syndrome (meconium ileus equivalent)
Fertility problems
Tests
CXR: Shadowing suggesting bronchiectasis especially in upper lobes
Malabsorption screen
Glucose tolerance test
Spirometry
Sputum culture
Skin test for Aspergillus (20% develop allergic bronchopulmonary aspergillosis)
Sweat Na+ or chloride >70mmol/L on 2 occasions
Management
1. Immunize (measles, influenza, pneumococcus)
2. High calorie diet with pancreatic enzyme and vitamin supplements (A,D,E,K)
3. Chest management - as bronchiectasis. i.e. physiotherapy, antibiotics (treat Staph in
kids, Pseudomonas in adults), bronchodilators and surgical excision as required
4. Heart/Lung transplant (5yr survival ~50%)
The future: Trials of recombinant human DNase I, leads to reduced sputum viscosity.
Gene therapy - no benefit yet
Prognosis - improving. Median survival 30yrs