E84.9
DESCRIPTION
An autosomal recessive disorder of exocrine glands, mainly affecting the gut, pancreas and lungs.
DIAGNOSTIC CRITERIA
Clinical
- Recurrent infections of the respiratory tract with later bronchiectasis, respiratory failure and cor pulmonale.
- Bulky, greasy and foul-smelling stools.
- Occasionally presents with constipation.
- Malabsorption with weight loss and failure to thrive.
- Meconium ileus.
- Positive family history is uncommon unless cystic fibrosis is present in a sibling.
Investigations
- Sweat test:
- Quantitative analysis of sodium and chloride concentrations in sweat collected after stimulation by pilocarpine iontophoresis with chloride > 60 mmol/L.
- Sweat conductivity tests are more readily available but not as reliable as sweat electrolyte testing. Positive range for conductivity is 90 mmol/L and above.
- DNA analysis for delta F508 and a few other mutations. Negative mutation analysis does not exclude cystic fibrosis.
- Stool elastase will be low in cystic fibrosis patients with pancreatic insufficiency.
GENERAL AND SUPPORTIVE MEASURES
- Nutritional support.
- Physiotherapy and postural drainage.
- Psychosocial support.
- Genetic counselling.
MEDICINE TREATMENT
Medicinal treatment is specialised and individualised and should be under the supervision of a subspecialist.
- Pancreatic enzymes (lipase/amylase/protease), with meals according to clinical response.
REFERRAL
- All to a recognised cystic fibrosis centre and/or specialist health facility for confirmation of diagnosis and initiation of treatment.
- Management of exacerbations.