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Cystic fibrosis
From WikEM
Contents
Background
- Autosomal recessive genetic disorder
- Due to a mutation in cystic fibrosis transmembrane conductance regulator protein (CTFR)
- CTFR=chloride channel important in function of mucus, sweat, and digestive fluids.
- Causes thick, viscous mucus leading to obstruction, inflammation, and damage to respiratory tract and exocrine organs
- Diagnosed by "sweat test" and/or genetic test
Clinical Features
- Respiratory
- Acute exacerbations lead to increase in baseline cough and sputum production
- Pneumonia
- Chronic infection with multiple organisms
- Staph aureus and H. influenzae common in childhood
- Most eventually chronically infected with pseudomonas aeruginosa and/or virulent gram-negative
- Pseudomonas features include: severe pneumonia, cyanosis, confusion, often bilateral, occasionally empyema
- Higher risk for aspergillosis
- Increased risk of pneumothorax (8%–20% will develop one in lifetime[1])
- Bronchitis
- Sinusitis, nasal polyps
- Chronic inflamation/infection leads to bronchiectasis and angiogenesis, which may lead to hemoptysis
- Long-standing disease can eventually lead to cor pulmonale
- Gastrointestinal
- Pancreatic insufficiency
- Pancreatitis
- Diarrhea and malnutrition due to resultant malabsorption
- Meconium ileus: failure to pass meconium within first 48 hours of life
- Obstruction due to thick meconium
- Can lead to perforation if unrecognized
- Other
- Electrolyte disturbances
- Chloride wasting and diarrhea can lead to hypokalemic, hypochloremic metabolic alkalosis
- Suppurative parotitis
- Rapid onset parotitis (warm, swollen, tender gland, fever, trismus)
- Purulent drainage from Stensen's duct
- Organisms: staph, strep pneumo, strep pyogenes, H. flu, e. coli, pseudomonas
- Electrolyte disturbances
Differential Diagnosis
Evaluation
- CBC (signs of infection), electrolytes, LFTs/lipase if concern for pancreatitis
- Consider blood and sputum cultures (may have resistant organisms)
- CXR
- Advanced disease: peribronchial thickening, mucous plugs, cystic/bullous lesions, atelectasis, hilar adenopathy, air trapping
- Infiltrates if pneumonia
- Pneumothorax
Management
- Infections
- Many patients already on maintenance azithromycin or tobramycin
- Antibiotics for acute pneumonia must be broad and include pseudomonal coverage
- e.g. Cefipime, Imipenem OR Piperacillin/Tazobactam + IV fluoroquinolone, +/- vancomycin for MRSA
- Other respiratory adjuncts
- Albuterol or other short-acting Beta-2 agonist
- Dornase alfa (inhaled recombinant deoxyribonuclease I, hydrolizes DNA in sputum to decrease viscosity)
- Nebulized Hypertonic saline (reduce sputum viscosity)
- Inhaled nitric oxide
- Chest physical therapy
- See treatment for pancreatitis
- Rehydrate if volume depleted, replete electrolytes
- Note potential for hypoalbuminemia when giving extensively protein-bound drugs
Disposition
- Dispo decision should be made in conjunction with patient's pulmonologist if possible, as they often know their patients very well
See Also
External Links
References
- ↑ Tintanelli's
