Cystic Fibrosis
To view the entire topic, please log in or purchase a subscription.
Emergency Central is a collection of disease, drug, and test information including 5-Minute Emergency Medicine Consult, Davis’s Drug, McGraw-Hill Medical’s Diagnosaurus®, Pocket Guide to Diagnostic Tests, and MEDLINE Journals created for emergency medicine professionals. Explore these free sample topics:
-- The first section of this topic is shown below --
Basics
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
GeneticsRecessively 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:- 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
-- To view the remaining sections of this topic, please log in or purchase a subscription --
Basics
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
GeneticsRecessively 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:- 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
There's more to see -- the rest of this topic is available only to subscribers.