• Cystic Fibrosis
    • Aetiology
      • Genetic, autosomal recessive
      • (i) 1:2,500 live births
      • Chromosome 7, codes for cystic fibrosis transmembrane regulator (CFTR)
      • CFTR is a chloride channel found on the apical border of most epithelial surfaces
      • Defective chloride transport leads to tenacious, thick secretions which is less well cleared by cilia
    • Diagnosis
      • Based on presence of one of:
        • A +ve newborn screeing test (NBS)
        • A Hx of CF in a sibling
        • One or more characteristic features
      • PLUS lab evidence of an abnormality in the CFTR gene or protein
      • NBS
        • Immunoreactive trypsinogen levels from heel prick
      • Sweat test
        • Transdermal pilocarpine used and sweat collected
      • Genetic testing
        • Can be done by CVS or amniocentesis
        • ∆F508 is the commonest mutation
    • Treatment
      • Supportive, aims to reduce infection, optimise nutrition, slow disease progression and treat symptoms
      • Respiratory
        • Physiotherapy
        • Inhaled bronchodilators and mucolytics
        • Postural drainage, percussion
      • Oxygen therapy
        • LTOT is an option in advanced disease
      • Drugs
        • Anti-inflammatories
          • Useful in acute exacerbatons, eg azithromycin, corticosteroids.
          • Usefulness limited by S/E
        • Antibiotics
          • In-patient or Out-patient
          • Inhaled, oral or IV all used
        • Mucolytics
          • Hypertonic saline (3 or 7%)
          • DNAase inhaled
        • Nutrition
          • Glycaemic control
          • Supplemental nutrition
          • Enzyme supplementation
        • Gene therapy
          • Nebulized plasmid DNA trials ongoing
    • Anaesthetic management
      • Pre-op
        • Optomize as much as possible
        • Full history and details of respiritory status
      • Ix
        • ABG/PFTs consider post-op ventilation
          • FEV1 <1L
          • FEV1 <60%
          • PaO₂ <9.3, PaCO₂ >6.6
        • FBC, U&E, LFT, Coag, Glucose
        • ECG
          • RVH, RBBB, RAD
      • Conduct of anaesthesia
        • Full AAGBI monitoring
        • Arterial line
        • LM ok for short procedures but doesn't allow suctioning
        • Avoid nasal intubation
        • Keep airway pressures as low as possible
        • Use short acting drugs where possible
        • Normothermia
        • Post-op
          • Physio
          • Mobilisation
          • Analgesia
          • Goal is early extubation
    • Clinical manifestations
      • Respiratory
        • Progressive lung disease
        • Patchy atelectasis, airway inflammation and chronic hypoxia
        • Abnormal mucus trapping --> inflammation and infection
        • Colonisation with Psudomonas, S. Aureus, H. infulenzae, B. cepacia and Aspergillus
        • Bronchiectasis
        • Eventual cor pulmonale, respiratory failure and death
      • Nasal
        • Sinusitis
        • Polyps
      • Upper GI
        • Pancreatic insufficiency
        • Malabsorption of vitamins ADEK
        • Staetorrhoea
        • CF related diabetes
        • Cirrhosis
      • Lower GI
        • Meconium ileus in neonates
        • Distal intestinal obstruction
      • Skin
        • Abnormal sweat
      • Bone
        • Osteoporosis
      • Genitourinary
        • Infertility
        • Absence of vas in males
    • CEACCP
      Link:ceaccp.oxfordjournals.org/content/early/2011/09/29/bjaceaccp.mkr038.full.pdf