5-Minute Emergency Consult
Cystic Fibrosis
Cystic Fibrosis is a topic covered in the 5-Minute Emergency Consult.
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Basics
Description
Description
- Defect of the cystic fibrosis transmembrane conductance regulator (CFTR)
- CFTR functions as an ATP-regulated chloride channel that regulates the activity of chloride and sodium channels on the cell surface:
- Abnormal electrolyte transport in exocrine glands and secretory epithelia
- Decreased exocrine pancreatic function with malabsorption
- Thickened mucus, recurrent pulmonary infections, and progressive obstructive damage to the lungs
- Recurrent sinus disease
- Occurs in 1:3,600 live births in White population, 1:29,000 in African American population; 1:6,500 in Hispanic population
- 30% of cases diagnosed by newborn screening
- 75% cases diagnosed in the first 2 yr of life
- ∼30,000 children and young adults in the U.S. have CF
- Median life expectancy in the U.S. in early 40’s
- 40% of CF patients are >18 yr
- 10 million Americans are unknown, asymptomatic carriers of the defective gene
- 16% of lung transplants in the U.S. due to CF
Risk Factors
GeneticsRisk Factors
Recessively inherited genetic disease, involving the CFTR gene on the long arm of chromosome 7:
- Different mutations; variable phenotypes
- Classic disease: Homozygous Phe508del mutation
- Most common lethal genetic disease in the U.S.
Etiology
Common organisms in patients with pneumonia; often multiple drug resistance:Etiology
- Staphylococcus aureus:
- MSSA/MRSA
- Pseudomonas aeruginosa:
- Prevalence increases with age; >70% of adults are chronically infected
- Haemophilus influenzae
- Stenotrophomonas maltophilia
- Burkholderia cepacia:
- Prevalence 3%
- Associated with rapid clinical deterioration
- Achromobacter xylosoxidans
- Mycobacteria (nontuberculous):
- Mycobacterium avium complex, Mycobacterium abscessus
- Aspergillus
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Basics
Description
Description
- Defect of the cystic fibrosis transmembrane conductance regulator (CFTR)
- CFTR functions as an ATP-regulated chloride channel that regulates the activity of chloride and sodium channels on the cell surface:
- Abnormal electrolyte transport in exocrine glands and secretory epithelia
- Decreased exocrine pancreatic function with malabsorption
- Thickened mucus, recurrent pulmonary infections, and progressive obstructive damage to the lungs
- Recurrent sinus disease
- Occurs in 1:3,600 live births in White population, 1:29,000 in African American population; 1:6,500 in Hispanic population
- 30% of cases diagnosed by newborn screening
- 75% cases diagnosed in the first 2 yr of life
- ∼30,000 children and young adults in the U.S. have CF
- Median life expectancy in the U.S. in early 40’s
- 40% of CF patients are >18 yr
- 10 million Americans are unknown, asymptomatic carriers of the defective gene
- 16% of lung transplants in the U.S. due to CF
Risk Factors
GeneticsRisk Factors
Recessively inherited genetic disease, involving the CFTR gene on the long arm of chromosome 7:
- Different mutations; variable phenotypes
- Classic disease: Homozygous Phe508del mutation
- Most common lethal genetic disease in the U.S.
Etiology
Common organisms in patients with pneumonia; often multiple drug resistance:Etiology
- Staphylococcus aureus:
- MSSA/MRSA
- Pseudomonas aeruginosa:
- Prevalence increases with age; >70% of adults are chronically infected
- Haemophilus influenzae
- Stenotrophomonas maltophilia
- Burkholderia cepacia:
- Prevalence 3%
- Associated with rapid clinical deterioration
- Achromobacter xylosoxidans
- Mycobacteria (nontuberculous):
- Mycobacterium avium complex, Mycobacterium abscessus
- Aspergillus
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Citation
Rosen, Peter, et al., editors. "Cystic Fibrosis." 5-Minute Emergency Consult, 5th ed., Lippincott Williams & Wilkins, 2016. Emergency Central, emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307111/all/Cystic_Fibrosis.
Cystic Fibrosis. In: Rosen P, Shayne P, Barkin AZ, et al, eds. 5-Minute Emergency Consult. Lippincott Williams & Wilkins; 2016. https://emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307111/all/Cystic_Fibrosis. Accessed June 7, 2020.
Cystic Fibrosis. (2016). In Rosen, P., Shayne, P., Barkin, A. Z., Wolfe, R. E., Hayden, S. R., Barkin, R. M., & Schaider, J. J. (Eds.), 5-Minute Emergency Consult (5th edition). Lippincott Williams & Wilkins. Retrieved June 07, 2020, from https://emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307111/all/Cystic_Fibrosis
Cystic Fibrosis [Internet]. In: Rosen P, Shayne P, Barkin AZ, Wolfe RE, Hayden SR, Barkin RM, Schaider JJ, editors. 5-Minute Emergency Consult. Lippincott Williams & Wilkins; 2016. [cited 2020 June 07]. Available from: https://emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307111/all/Cystic_Fibrosis.
* Article titles in AMA citation format should be in sentence-case
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