Cystic fibrosis: Difference between revisions
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==Background== | ==Background== | ||
*Autosomal recessive genetic disorder | *Autosomal recessive genetic disorder | ||
** | **Mutation in cystic fibrosis transmembrane conductance regulator protein (CFTR) leads to defect of sodium/chloride exchange channel | ||
** | **Defect in chloride transport leads to thick, viscous secretions in lungs, pancreas, liver, intestines, reproductive tract | ||
*Diagnosed by sweat chloride test | |||
*Diagnosed by | *Predicted life expectancy less than 40 years | ||
==Clinical Features== | ==Clinical Features== | ||
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**Acute exacerbations lead to increase in baseline cough and sputum production | **Acute exacerbations lead to increase in baseline cough and sputum production | ||
**[[Pneumonia]] | **[[Pneumonia]] | ||
***Chronic | ***Chronic colonisation with multiple organisms | ||
***[[Staph aureus]] and [[H. influenzae]] common in childhood | ***[[Staph aureus]] and [[H. influenzae]] common in childhood | ||
***Most | ***Most become chronically colonised with [[pseudomonas aeruginosa]] and/or virulent [[gram-negative]] bacteria | ||
****Colonisation with [[pseudomonas aeruginosa]] usually occurs by late adolescence | |||
***Pseudomonas features include: severe pneumonia, cyanosis, confusion, often bilateral, occasionally empyema | ***Pseudomonas features include: severe pneumonia, cyanosis, confusion, often bilateral, occasionally empyema | ||
***Higher risk for [[aspergillosis]] | ***Higher risk for [[aspergillosis]] | ||
**Increased risk of [[pneumothorax]] (8%–20% will develop one in lifetime<ref>Tintanelli's</ref>) | **Increased risk of [[pneumothorax]] (8%–20% will develop one in lifetime<ref>Tintanelli's</ref>) | ||
**[[Bronchitis]] | **[[Bronchitis]] | ||
**[[Sinusitis]] | **[[Sinusitis]] and nasal polyps | ||
**Chronic | **Chronic inflammation and infection lead to [[bronchiectasis]] and angiogenesis (may have [[hemoptysis]]) | ||
**Long-standing disease can | **Long-standing disease can lead to [[cor pulmonale]] | ||
*Gastrointestinal | *Gastrointestinal | ||
**Meconium [[ileus]]: failure to pass meconium within first 48 hours of life | |||
***Earliest clinical manifestation of disease | |||
***Occurs in 10 - 20% of those diagnosed | |||
***90% of babies with meconium ileus have cystic fibrosis | |||
***[[SBO|Obstruction]] due to thick meconium | |||
***Can lead to perforation if unrecognized | |||
***Diagnosed and treated with hyperosmolar contrast enema | |||
**Pancreatic insufficiency | **Pancreatic insufficiency | ||
***Often leads to [[failure to thrive (peds)|failure to thrive]] in infancy | |||
**[[Pancreatitis]] | **[[Pancreatitis]] | ||
**[[Diarrhea]] and malnutrition due to resultant malabsorption | **[[Diarrhea]] and malnutrition due to resultant malabsorption | ||
*Other | *Other | ||
**Electrolyte disturbances | **Electrolyte disturbances | ||
***Chloride wasting and diarrhea can lead to hypokalemic, hypochloremic [[metabolic alkalosis]] | ***Chloride wasting and diarrhea can lead to [[hypokalemia|hypokalemic]], hypochloremic [[metabolic alkalosis]] | ||
**[[Suppurative parotitis]] | **[[Suppurative parotitis]] | ||
***Rapid onset parotitis (warm, swollen, tender gland, fever, trismus) | ***Rapid onset parotitis (warm, swollen, tender gland, fever, trismus) | ||
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==Evaluation== | ==Evaluation== | ||
*CBC (signs of infection) | *Sweat chloride test to make diagnosis, may also be diagnosed by amniocentesis if high suspicion antenatally (outside ED scope) | ||
*CBC (signs of infection) | |||
*Electrolytes | |||
*[[LFTs]] and lipase (if concern for [[pancreatitis]]) | |||
*Consider blood and sputum cultures (may have resistant organisms) | *Consider blood and sputum cultures (may have resistant organisms) | ||
*[[CXR]] | *[[CXR]] | ||
**Advanced disease: peribronchial thickening, mucous plugs, cystic/bullous lesions, atelectasis, hilar adenopathy, air trapping | **Advanced disease: peribronchial thickening, mucous plugs, cystic/bullous lesions, atelectasis, hilar adenopathy, air trapping | ||
**Infiltrates if pneumonia | **Infiltrates if [[pneumonia]] | ||
**Pneumothorax | **[[Pneumothorax]] | ||
==Management== | ==Short-Term Management== | ||
*Infections | *Infections | ||
**Many patients already on maintenance [[azithromycin or tobramycin]] | **Many patients already on maintenance [[azithromycin]] or [[tobramycin]] | ||
**Antibiotics for acute pneumonia must be broad and include pseudomonal coverage | **Antibiotics for acute pneumonia must be broad and include pseudomonal coverage | ||
***e.g. [[ | ***e.g. [[Cefepime]], [[Imipenem]], '''OR''' [[Piperacillin/Tazobactam]] + IV [[fluoroquinolone]], +/- [[vancomycin]] for MRSA | ||
*Other respiratory adjuncts | *Other respiratory adjuncts | ||
**Albuterol or other short-acting [[Beta-2 agonist]] | **[[Albuterol]] or other short-acting [[Beta-2 agonist]] | ||
**Dornase alfa (inhaled recombinant deoxyribonuclease I, hydrolizes DNA in sputum to decrease viscosity) | **Dornase alfa (inhaled recombinant deoxyribonuclease I, hydrolizes DNA in sputum to decrease viscosity) | ||
**Nebulized | **Nebulized [[hypertonic saline]] (reduce sputum viscosity) | ||
**Inhaled nitric oxide | **Inhaled nitric oxide | ||
**Chest physical therapy | **Chest physical therapy | ||
*See treatment for [[pancreatitis]] | *See treatment for [[pancreatitis]] | ||
*Rehydrate if volume depleted, replete electrolytes | *Rehydrate if volume depleted, replete electrolytes | ||
*Note potential for hypoalbuminemia when giving extensively protein-bound drugs | *Note potential for [[hypoalbuminemia]] when giving extensively protein-bound drugs | ||
==Long-Term Management== | |||
*Chest physiotherapy | |||
*Exercise therapy | |||
*Pancreatic enzymes | |||
*Fat-soluble vitamin supplementation | |||
*Nebulised DNase | |||
*Lung transplant | |||
==Disposition== | ==Disposition== |
Latest revision as of 15:10, 21 May 2020
Background
- Autosomal recessive genetic disorder
- Mutation in cystic fibrosis transmembrane conductance regulator protein (CFTR) leads to defect of sodium/chloride exchange channel
- Defect in chloride transport leads to thick, viscous secretions in lungs, pancreas, liver, intestines, reproductive tract
- Diagnosed by sweat chloride test
- Predicted life expectancy less than 40 years
Clinical Features
- Respiratory
- Acute exacerbations lead to increase in baseline cough and sputum production
- Pneumonia
- Chronic colonisation with multiple organisms
- Staph aureus and H. influenzae common in childhood
- Most become chronically colonised with pseudomonas aeruginosa and/or virulent gram-negative bacteria
- Colonisation with pseudomonas aeruginosa usually occurs by late adolescence
- 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 and nasal polyps
- Chronic inflammation and infection lead to bronchiectasis and angiogenesis (may have hemoptysis)
- Long-standing disease can lead to cor pulmonale
- Gastrointestinal
- Meconium ileus: failure to pass meconium within first 48 hours of life
- Earliest clinical manifestation of disease
- Occurs in 10 - 20% of those diagnosed
- 90% of babies with meconium ileus have cystic fibrosis
- Obstruction due to thick meconium
- Can lead to perforation if unrecognized
- Diagnosed and treated with hyperosmolar contrast enema
- Pancreatic insufficiency
- Often leads to failure to thrive in infancy
- Pancreatitis
- Diarrhea and malnutrition due to resultant malabsorption
- Meconium ileus: failure to pass meconium within first 48 hours of life
- 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
- Sweat chloride test to make diagnosis, may also be diagnosed by amniocentesis if high suspicion antenatally (outside ED scope)
- CBC (signs of infection)
- Electrolytes
- LFTs and 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
Short-Term Management
- Infections
- Many patients already on maintenance azithromycin or tobramycin
- Antibiotics for acute pneumonia must be broad and include pseudomonal coverage
- e.g. Cefepime, 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
Long-Term Management
- Chest physiotherapy
- Exercise therapy
- Pancreatic enzymes
- Fat-soluble vitamin supplementation
- Nebulised DNase
- Lung transplant
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