Cystic Fibrosis
Description Diagnostic criteria General and supportive measures Medicine treatment Referral ICD-10 code: 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
Description
Diagnostic criteria
General and supportive measures
Medicine treatment
Referral
ICD-10 code: 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. 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.
Standard Treatment Guidelines and Essential Medicines List for South Africa Paediatric Hospital _2023, 5th edition_Updated July 2024
Chapter 2: Alimentary Tract, 2.2 Gastrointestinal Disorders, 2.2.3 Cystic Fibrosis