Cystic Fibrosis Flashcards
How many disease-causing mutations have been identified in the CF gene?
1500
What are some respiratory problems associated with CF?
chronic sinus and respiratory infections, Bronchiectasis
What is the problem with the pancreas in CF?
failure of the pancreas to produce sufficient digestive enzymes to allow breakdown and absorption of fats and protein; also can have CF related diabetes
What is Ivacaftor?
a CFTR potentiator given to pts with at least one G551D or gating mutation
What is the median life span of pts with CF?
37
What is Lumacaftor?
a CFTR corrector for pts with 2 copies of the F508del mutation
What is tobramycin?
an inhaled antibiotic
What happens to the periciliary layer in CF pts?
the cilia cannot beat b/c they are so bogged down with thick mucus
CF should also be considered in infants and children who present with severe _____ and hypochloremic metabolic alkalosis.
dehydration
What are the airway management treatments for CF?
Daily percussive therapy, Recombinant human DNAse, Inhaled hypertonic saline, azithromycin, and Bronchodilators
Why are most male CF pts infertile?
the vas deferens doesn’t develop
What is steatorrhea?
excess fat in the feces
Infants with undiagnosed CF may also present with hypoproteinemia with or without edema, _____, and deficiency of _____.
anemia; the fat-soluble vitamins
An acute change in respiratory signs and symptoms from the subject’s baseline is called a _________.
pulmonary exacerbation
The most common CF mutation is the _______.
F508del
What is bronchiectasis?
chronic enlargement of airways in the lungs (bad)
CF should also be considered in infants and children who present with severe dehydration and _______.
hypochloremic metabolic alkalosis
The CFTR functions as an ______ and controls the movement of ____ and _____ into and out of cells.
ion channel; salt; water
Name 2 CF physical signs.
clubbing of the fingernails; nasal polyps
What is the result of a defective or deficient CFTR?
abnormally thick secretions in various organ systems and critically altering host defense in the lung
_______ occurs in more than 85% of persons with CF.
Pancreatic insufficiency
What is unique about the stools in CF pts?
they’re greasy, bulky, and malodorous
Pancreatic insufficiency occurs in more than ____ of persons with CF.
85%
How is CF inherited?
autosomal recessive
How is inflammation treated in CF?
high dose ibuprofen
CF is caused by a ________ gene.
defect in an ATP-binding cassette transporter
What is the false negative rate for CF?
1-5%
Approximately 15% of newborns with CF present at birth with ______.
meconium ileus
Why do untreated CF pts present with failure to thrive?
exocrine pancreas insufficiency
What is a pulmonary exacerbation?
An acute change in respiratory signs and symptoms from the subject’s baseline
What is an issue with the liver in CF?
focal sclerosis
What eventually becomes the predominant pathogen in lung infections in CF patients?
Pseudomonas aeruginosa
What are the dietary treatments for CF?
enzyme supplementation, high calorie, high protein, high fat diet, fat soluble vitamin supplements, and salt supplements
Infants with undiagnosed CF may also present with ______ with or without ____, anemia, and deficiency of the fat-soluble vitamins.
hypoproteinemia; edema
The _____ functions as an ion channel and controls the movement of salt and water into and out of cells.
CFTR
What is meconium ileus?
severe intestinal obstruction resulting from inspissation of tenacious meconium in the terminal ileum
What is the diagnostic sweat chloride level in CF?
> 60 mmol/L
What is the incidence rate of CF?
1:3000 Caucasians; 1:9000 Hispanics
Name the fat soluble vitamins.
A, D, E, and K
Where are the CF genes located?
chromosome 7
What is aztreonam?
an inhaled antibiotic
