- Autosomal recessive disorder of the cystic fibrosis transmembrane conductance regulator (CFTR) which induces low salt and chloride excretion into airways leading to increased viscosity of airway secretions
Clinical features
- Respiratory
- Recurrent chest infections
- Clubbing
- Sinusitis
- Haemoptysis
- Nasal polyps
- Spontaneous pneumothorax
- Respiratory failure
- Right ventricular failure
- Gastrointestinal
- Steatorrhoea (pancreatic insufficiency)
- Meconium ileus
- Gallstones
- Cirrhosis
Investigations
- Sweat electrolyte test
- DNA analysis for genotype
Management
- Antibiotics
- Pancreatic/nutritional supplements
- Amiloride or adenosine to improve hydration of secretions
- Inhaled antibiotics, corticosteroids and recombinant human DNase
- CFTR gene therapy
- Lung transplant
Prognosis
- Median survival 40 years
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