CF Flashcards
Initially, the patient has bronchial gland ______ and metaplasia of _____. This condition leads to the excessive production and accumulation of _______ in the tracheobronchial tree secondary to inadequate hydration of the periciliary fluid layer (sol layer).
hypertrophy, goblet cells, thick, tenacious mucus
Partial obstruction leads to ______, and complete obstruction leads to patchy areas of _____ and, in some cases, _____
overdistension of the alveoli, atelectasis, bronchiectasis
______, _______, _______ are the predominant features of CF in the advanced stages.
excessive bronchial secretions, bronchial obstruction, and hyperinflation of the lungs
The abundance of stagnant mucus in the tracheobronchial tree also serves as an excellent culture medium for bacteria, particularly ______, _________, _________
Staphylococcus aureus, Haemophilus influenzae, and Pseudomonas aeruginosa.
Some gram-negative bacteria are also commonly associated with CF, such as _______ and ________
Stenotrophomonas maltophilia, Burkholderia cepacia complex
The major respiratory pathologic or structural changes associated with CF
- Excessive production and accumulation of thick, tenacious mucus in the tracheobronchial tree secondary to inadequate hydration of the periciliary fluid layer.
- Partial bronchial obstruction (mucous plugging)
- Hyperinflation of the alveoli
- Total bronchial obstruction (mucous plugging)
- Atelectasis
- Bronchiectasis
CF is an ________ caused by mutations in a pair of genes located on _______
autosomal recessive gene disorder, chromosome 7
Over 2400 different mutations in the gene that encodes for the_____________ (CFTR) have been described.
cystic fibrosis transmembrane conductance regulator
One genetic defect linked to CF involves the absence of three base pairs in _________that codes for phenylalanine on chromosome 7 (band q31.2). Because of the loss of these three base pairs, the CFTR protein becomes dysfunctional.
codon 508 (ΔF508)
The abnormal expression of the CFTR results in abnormal transport of _______and _________across many types of epithelial surfaces, including those lining the bronchial airways, intestines, pancreas, liver ducts, and sweat glands.
sodium and chloride ions
As a result, _______ accumulates in the lungs, and
mucus blocks the passageways of the pancreas, preventing enzymes from the pancreas from reaching the intestines.
thick, viscous mucus
Some infants with CF are born with a blockage of the intestine—a condition called __________. Most men with CF are ______ as a result of a missing or an underdeveloped vas deferens. Fertility is decreased in women with CF secondary to thick
cervical mucus.
meconium ileus, infertile (azospermic)
Because CF is a recessive gene disorder, the child must inherit
____ copies of the _____ CF gene—one from each parent
(cystic fibrosis carriers)—to have the disease.
two, defective
The following two criteria must be met to diagnose CF:
- Clinical symptoms consistent with CF in at least one
organ system—for example, pulmonary system, sinus
disease, pancreatic disease, meconium ileus, biliary disease,
and male infertility. - Clinical evidence of cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction—any of the following:
• Elevated sweat chloride >60 mEq/L (on two occasions)
• Molecular diagnosis (Genetic Testing). Presence of
two disease-causing mutations in CFTR
• Abnormal nasal potential difference
Most infants with CF have an elevated blood level of _________, which can be measured by ________ or by an enzyme-linked immunoassay.
immunoreactive trypsin (also called trypsin-like immunoreactivity and serum trypsin), radioimmunoassay
The diagnosis of CF is established by a _______
positive sweat test and/or genetic analysis for CF mutations
The ___________ is the gold standard diagnostic test for CF.
sweat test (sometimes called the sweat chloride test)
During the procedure, a small amount of a colorless, odorless sweat-producing chemical called ______ is applied to the patient’s arm or leg— usually the forearm. An _____ is attached to the chemically prepared area, and a mild electric current is applied to stimulate sweat production. The test is usually done twice.
pilocarpine, electrode
In both infants and adults, a sweat chloride concentration _______ is considered to be a diagnostic sign of CF
greater than 60 mEq/L
Intermediate results of sweat chloride testing should be further investigated with a DNA analysis using a______. The sweat chloride test should also be repeated.
CFTR multimutation method
As the Na+ and Cl− ions move across the epithelial cell membrane they generate what is called an ________—the amount of energy required to move an electrical charge from one point to another.
electrical potential difference
The NPD is recommended for patients with clinical features of CF who
have _________and ___________
borderline or normal sweat test values and nondiagnostic CF genotyping.
If desired, the fetus can be tested for CF by _______after the first trimester
amniocentesis
The _________ measures the amount of fat in the infant’s stool and the percentage of dietary fat that is not absorbed by the body
stool fecal fat test
Under normal conditions the fat malabsorption is less than ______
7g of fat per 24 hours.
Fecal elastance is an easier test of pancreatic function as it only requires a small stool sample for analysis. Infants with CF and pancreatic insufficiency will have a fecal elastance of less than ______ (normal is greater than 300 µg/g of stool)
50 µg/g of stool
The management of CF entails an interdisciplinary approach.
The primary goals are to _____, ________, _______ and ________
prevent pulmonary infections
reduce the amount of thick bronchial secretions
improve air flow
provide adequate nutrition
______ is used to treat hypoxemia, decrease the work
of breathing, and decrease myocardial work in patients with CF with advanced pulmonary disease or during acute exacerbations.
Oxygen therapy
______ is used to treat hypoxemia, decrease the work
of breathing, and decrease myocardial work in patients with CF with advanced pulmonary disease or during acute exacerbations.
Oxygen therapy
because many patients with CF require bronchial hygiene therapy at least ________, manual chest physiotherapy and postural drainage can be overwhelming for the caretaker
twice a day for 20 to 30 minutes
Recommended bronchodilators include beta2-adrenergic agonists—such as the short-acting agent _____, or long-acting agents such as ______. The anticholinergic agent ______ and the longer-acting _____ are also used to treat patients with CF.
albuterol, salmeterol or formoterol, ipratropium bromide, tiotropium
This aerosolized agent is an enzyme that breaks down the DNA of
the thick bronchial mucus associated with chronic bacterial infections with CF
DNase (Dornase Alpha)
_________ may be administered to help hydrate thick mucus in the airways of patients with CF who are 6 years of age or older, have a chronic cough, and have a reduced FEV1. A typical treatment regimen is, first, the administration of a _______, followed by 4 mL of a 3% to 7% saline solution, twice a day.
Inhaled hypertonic saline, bronchodilator (e.g., albuterol)
_______ are commonly administered to prevent or combat chronic respiratory tract infections.
Antibiotics are commonly administered to prevent or combat
chronic respiratory tract infections.
Inhaled antibiotics widely used to treat P. aeruginosa in CF include __________and ________
inhaled tobramycin and inhaled aztreonam (Cayston)
High-dose ______ is recommended in children and young
adolescents with mild CF, and who have good lung function
(an FEV1 >60% predicted) and no contradictions (e.g., gastrointestinal bleeding or renal impairment).
ibuprofen
Ibuprofen has been shown to reduce _______ without hindering bacterial clearance—reducing the decline in the patient’s
FEV1 per year—with no remarkable side effects except painless gastrointestinal bleeding in 1% to 2% of patients. High-dose ibuprofen is thought to work by decreasing _______ and inflammation in the lungs. The initiation of ibuprofen is not recommended after the age of 13 years.
bronchial inflammation, neutrophil migration
In patients with CF, but without airway reactivity or allergic
bronchopulmonary aspergillosis, the administration of inhaled
________ have not shown any clear benefits and, therefore,
is not recommended. However, inhaled corticosteroids may
be beneficial in patients with CF who demonstrate airway reactivity.
corticosteroids
Systemic glucocorticoids are not recommended in _____ and _____ with CF. The benefits of systemic glucocorticoids are outweighed by the adverse effects on growth retardation, glucose metabolism, development of CF-related diabetes, and cataract risks.
children and adolescents
_________ are drugs that help mutated CFTR reach the epithelial cell surface where the CFTR protein normally functions as a transmembrane regulator of chloride movement out of the cell and sodium transport into the cells.
Correctors
______ are drugs which help mutated CFTR function
more effectively at the epithelial cell surface transporting
chloride out of the cell and inhibiting the movement of
sodium into the cell.
Potentiators
_______ is the first drug developed that targets the underlying causes of CF, the faulty CF gene G551D, and its defective CFTR
protein.
Ivacaftor
