Cystic fibrosis

• Autosomal recessive 1 in 2000 live births
• CF transmembrane conductance regulator on Chr 7
• Leads to defective chloride secretion and sodium absorption across airway epithelium

Clinical

• Neonates;
  • FTT, meconium ileus, rectal prolapse
• Children and young adults;
  • Cough, wheeze recurrent infections, pneumothorax, respiratory failure
  • GI – pancreatic insufficiency (DM, steatorrhoea), distal intestinal obstruction syndrome, gallstones, cirrhosis
  • Other – Male infertility, osteoporosis, arthritis, nasal polyps, sinusitis, hypertrophic pulmonary osteoarthropathy
• Signs;
  • Finger clubbing, bilateral coarse crackles

Diagnosis

• Sweat test
• Genetics
• Faecal elastase looking for pancreatic dysfunction

Tests

• Bloods – FBC, U&Es, LFTs, clotting, Vit A,D and E, annual OGTT
• Bacteriology – cough swab, sputum culture
• Radiology – CXR, hyperinflation, bronchiectasis
• Spirometry – obstructive defect
• Apergillus serology or skin test
• Biochemistry – faecal fat test

Management

• MDT – physician, physio, specialist nurse, dietician

• Chest – physiotherapy, antibiotics for acute infections or prophylactically, mucolytics, bronchodilators
• GI – pancreatic enzyme replacement, fat sol vitamin supplements, ursodeoxycholic acid for impaired liver function
• Other – insulin, treatment of arthritis, sinusitis, vasculitis
• Advanced lung disease – oxygen, diuretics (cor pulmonale, non-invasive ventilation, lung, heart/lung Tx