Cystic fibrosis: Difference between revisions

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==Background==
==Background==
*Autosomal recessive genetic disorder  
*Autosomal recessive genetic disorder  
**Due to a mutation in cystic fibrosis transmembrane conductance regulator protein (CTFR)  
**Mutation in cystic fibrosis transmembrane conductance regulator protein (CFTR) leads to defect of sodium/chloride exchange channel
**CTFR=chloride channel important in function of mucus, sweat, and digestive fluids.
**Defect in chloride transport leads to thick, viscous secretions in lungs, pancreas, liver, intestines, reproductive tract
*Causes thick, viscous mucus leading to obstruction, inflammation, and damage to respiratory tract and exocrine organs
*Diagnosed by sweat chloride test
*Diagnosed by "sweat test" and/or genetic test
*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 infection with multiple organisms
***Chronic colonisation with multiple organisms
***[[Staph aureus]] and [[H. influenzae]] common in childhood
***[[Staph aureus]] and [[H. influenzae]] common in childhood
***Most eventually chronically infected with [[pseudomonas aeruginosa]] and/or virulent [[gram-negative]]
***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]], nasal polyps
**[[Sinusitis]] and nasal polyps
**Chronic inflamation/infection leads to bronchiectasis and angiogenesis, which may lead to hemoptysis
**Chronic inflammation and infection lead to [[bronchiectasis]] and angiogenesis (may have [[hemoptysis]])
**Long-standing disease can eventually lead to [[cor pulmonale]]
**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
**Meconium ileus: failure to pass meconium within first 48 hours of life
***Obstruction due to thick meconium
***Can lead to perforation if unrecognized
*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), electrolytes, LFTs/lipase if concern for pancreatitis
*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. [[Cefipime]], [[Imipenem]] OR [[Piperacillin/Tazobactam]] + IV [[fluoroquinolone]], +/- [[vancomycin]] for MRSA
***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 Hypertonic saline (reduce sputum viscosity)
**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
  • 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
    • Pancreatitis
    • Diarrhea and malnutrition due to resultant malabsorption
  • Other
    • Electrolyte disturbances
    • 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

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

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

  1. Tintanelli's