Test 3 Ch.15 Cystic Fibrosis Flashcards
The lungs of a pt w/ CF appear normal at birth, but
abnormal structures can develop quickly
CF is a
genetic inheriting disorder
Partial obstruction leads to over distention of the ___________.
alveoli
The anatomic alterations of the lungs associated with CF may result and both….
restrictive and obstructive
Excessive bronchial secretions, bronchial obstruction, and hyperinflantion of the lungs are features of CF in the…….
advance stages
The abundance of stagnant mucus in the TB tree serves as a medium for bacteria particularly: (3)
- Staphylococcus aureus
- Haemophilus influnzae
- Pseudomonas aeruginosa
Some Gram- negative bacteria are also common in CF, such as (2)
- Stenotrophomonas maltophilia
- Burkholderia cepacian complex
The major respiratory pathologic or structural changes associated w/ CF are: (6)
- Excessive production and accumulation of thick tenacious mucus in the TB tree secondary to inadequate hydration of the periciliary fluid layer
- Partial bronchial obstruction (mucus plugging)
- Hyperinflation of the alveoli
- Total bronchial obstruction (mucus plugging)
- Atelectasis
- Bronchiectasis
CF is the most common….
fatal inherited disorder in childhood
CF is an autosomal recessive gene disorder caused by
mutations in pair of genes on chromosome 7
Both parents must have the gene
mutation for child to be diagnosed
More than ______ mutations in the gene that encodes for…….
1700; Cystic fibrosis transmembrane conductance regulator (CFTR)
The abnormal expression of the CFTR results in abnormal transport of ________ and _________ ions across many types of ___________ surfaces including the lining of the bronchial airways ___________, __________, liver ducts and ________ glands.
sodium; chloride; epithelial ; intestines; pancreas; sweat
As a result of thick viscous, mucus accumulates in the lungs and mucus blocks the passageways of the pancreas prevents enzymes from the pancreas from…….
reaching the intestines
They are ___ classes of CFTR mutations that can be divided into ___ broad categories affecting either the quantity or function of the _____ protein
6;
3;
CFTR
CF is a _______ gene disorder
recessive
The child must inherited ___ copies of the defective CF gene one from…..
2
each parent
CF gene follows the
standard Mendelian pattern
According to the pattern there is a ____% chance that each child will have CF; a ___% chance that each child will be completely normal; and a ___% chance that each child will be a carrier
25%
25%
50%
When both parents carry the CF gene mutation there is a
1/4 chance the child will have CF
It is estimated that ___ million unknowing carry the gene.
10
According to the Cystic Fibrosis Foundation, CF affects ___ children and adults in the U.S and about ___ worldwide
30,000
70,000
The diagnosis of CF is based on the (3)
- clinical manifestations associated w/ CF
- family history of CF
- laboratory findings
The following two criteria must be met to diagnose CF:
- Clinical symptoms consistent w/ CF in at least one organ system
- Clinical evidence of CFTR dysfunction
What are the Clinical evidence of CFTR dysfunction to diagnose CF: (3) (test)
- Elevated sweat chloride greater than 60 mEq/L (on two occasions)
- Molecular diagnosis (genetic testing) presence of two disease, causing mutations in CFTR
- Abnormal nasal potential difference
Newborn screening for CF has been part of the newborn genetic testing protocol in all 50 states since _____
2011
Most infants w/ CF have an elevated blood level of
immunoreactive trypsin
What is another name for immunoreactive trypsin
trypsin-like immunoreactive and serum trypsin
The sweat test is sometimes called
sweat chloride test
The sweat test is the
gold standard diagnostic test for CF
The sweat test is a ________ test for the identification of ____% of pts w/ CF
reliable
98%
During the sweat test a small amount of colorless, orderless, harmless, sweat- producing called
pilocarpine
pilocarpine is applied to the pt’s
arm or leg and usually the forearm
How many times is the sweat test performed?
2 times
An electrode is attached to the chemically area and a mild _______ current is applied to stimulate ______ ___________
electric
sweat production
All pts w/ the following characteristics should undergo a sweat test to help confirm CF: (4)
- Infants w/ a positive CF newborn screening
- Infants w/ symptoms of CF
- Older siblings w/ symptoms suggestive of CF
- Members of the pt’s family w/ confirmed CF
Clinical indicators justifying the initial evaluation for CF, Pulmonary (6)
- Wheezing
- Chronic cough
- Sputum production
- Nasal polyps
- Frequent respiratory infections
- Digital clubbing
Clinical indicators justifying the initial evaluation for CF Gastrointestinal Disorders (5)
- Failure to thrive
- Foul smelling, greasy stools
- Voracious appetite
- Pancreatitis
- Meconium ileus
Clinical indicators justifying the initial evaluation for CF, Nutritional Deficits (3)
- Fat-soluble vitamin deficiency (A, D, E, K)
- Hypoproteinemia
- Hypochloremia (metabolic alkalosis)
Clinical indicators justifying the initial evaluation for CF, Infertility (Male)
- Obstructive azoospermia
Genetic test is done with a sample of the pt’s
blood, or check cells
Another name for genetic test (3)
- genotype test
- gene mutation test
- mutation analysis
The test can be performed to analyze _____ for the presence of _______ gene mutation
DNA
CFTR
Immediate results of sweat chloride test should be further investigated w/ DNA analysis using the
CFTR multimutation method
Sweat test interpretations: Infants 6 months or younger:
- Normal ( CF unlikely)
- Intermediate (possible CF)
- Abnormal (Diagnosis of CF)
- less than or equal to 29 mmol/L
- 30 to 59 mmol/L
- greater than or equal to 60
Sweat test interpretations: Infants older than 6 months, children and adults:
- Normal ( CF unlikely)
- Intermediate (possible CF)
- Abnormal (Diagnosis of CF)
- less than or equal to 39 mmol/L
- 40 to 59 mmol/L
- greater than 60 mmol/L
The impaired transport of of _______ and _______ across the epithelial cells lining the airways of the pt w/ CF can be measured
sodium (Na+)
chloride (CI+)
As the Na+ and CI+ ions move across the epithelia cell membrane they generate what?
Electrical potential difference
The amount of energy required to move an electrical charge from one point to another
electrical potential difference
In the nasal passages this electrical potential difference is called
nasal potential difference (NPD)
It is recommended that pregnant females be offered screening for CF mutations using a ____ to ____ mutation panel
32 to 85
If females test positive do they have the option to have the father of the fetus tested?
Yes
If both parents test positive for a CF mutation, the fetus has a
one in four (25%) chance of having CF
This is very important in all cases of prenatal testing for CF to explain this uncertainty or residual risk to prospective parents
Genetic counseling
This test measures the amount of fat in the infant’s stool and percentage of dietary fat is not absorbed by the body. What is this test called?
Fecal fat test
The fecal fat test is used to evaluate how the ( 4 organs) are functioning
liver, gallbladder, pancreas, and intestines
______ __________ is an easier test of the pancreatic function b/c it requires only a ______ amount of stool sample for analysis
Fecal elastance; small
Infants w/ CF and pancreatic insufficiency will have a fecal elastance of less than
50 micrograms/ grams (<50) of stool
What is normal fecal elastance?
greater than 300 micrograms/grams (>300) of stool
The following clinical manifestations results from the pathophysiologic mechanisms caused by (or activated) by (3)
- Atelectasis
- Bronchospasm
- Excessive bronchial secretions
The physical examination:
Vitals signs for CF
Increased RR (Tachypnea)
- Stimulation of peripheral chemoreceptors (hypoxemia)
- Decreased lung compliance
- Anxiety
- Increased temp
Increased HR (Pulse) BP
More for physical examination for CF:
- Use of Accessory Muscles During Inspiration and Expiration
- Pursed-Lip breathing
- Increased Anteroposterior Chest Diameter (Barrel Chest)
- Cyanosis
- Digital Clubbing
Peripheral Edema and Venous Distention:
B/c polycythemia and cor pulmonale are associated with serve CF, the following may be seen: (3)
- Distended neck veins
- Pitting edema
- Enlarged and tender liver
Chest Assessment findings of CF (air 7)
- Decreased or Increased tactile fremitus
- Hyperresonant
- Diminished breath sounds
- Diminished heart sounds
- Bronchial breath sounds (over atelectasis)
- Crackles
- Wheezes
Some type of injury to the lung that causes a puncture, and air gets out of the lung into the pleural space
Pneumothorax
No obvious injury that should have caused the pneumothorax
Spontaneous pneumothorax
SP is commonly seen in pts w/
CF
The incidence of a SP is greater than ___% in adults w/ CF
20%
When a pt w/ CF has a pneumothorax, there is a…..
50% chance that it will recur
Abnormal Lab Test and Procedures: Hematology (RBC)
- Increased hematocrit and hg
- Increased WBC count
Electrolytes for CF:
- Hypochloremia (chronic vent failure)
- Increased serum bicarbonate (chronic vent failure)
Sputum Examination for CF:
- Increased WBC
- Gram- positive bacteria (Staphylococcus aureus, Haemophilus influezae)
- Gram- negative bacteria (Pseudomonas aeruginosa, Stenotrophomonas maltophilia, Burkholderia cepacian complex)
Radiologic Findings: Chest Radiograph (7)
- Translucent (dark) lung fields
- Depressed or flattened diaphragms
- Right ventricular enlargement
- Areas of atelectasis and fibrosis
- Tram tracks
- Bronchiectasis
- Pneumothorax
____ is the #1 cause of ______________.
CF; Bronchiectasis
An obstruction of the small intestine of the newborn that is caused by the impaction of thick and dry, tenacious meconium, usually at or near the ileocecal valve
Meconium ileus
Meconium ileus may occur in ___% of infants w/ CF
25%
Previously know as Meconium ileus equivalent is an obstruction that occurs in older children and young adults w/ CF (clinical instructor)
Distal Intestinal Obstruction Syndrome (DIOS)
About 80% of all pts w/ CF have a ____________ deficiency
vitamin
Nasal polyps are seen in (%)
10% and 30% pts w/ CF
90% and 100% of pts w/ CF have
sinusitis
About ____% of men w/ CF are infertile
99%
Women w/ CF who become pregnant may not be able to
carry the infant to full term
An infant who is carried to full term may have
CF or be a carrier
The primary goals for management of CF are to: (4)
- Prevent pulmonary infections
- Reduce the amount of thick bronchial secretions
- Improve airflow
- Provide adequate nutrition
What does Dornase Alpha do in a pt w/ CF?
Breaks down the DNA in CF
What are the Respiratory Protocols in CF? (5)
- Oxygen Therapy
- Airway Clearance Therapy
- Lung Expansion Therapy
- Aerosolized Medication
- Mechanical Ventilation
Is used to treat hypoxemia, decrease myocardial work in pts w/ CF with advance pulmonary disease or durning acute exacerbations
O2 Therapy Protocol
B/c of excessive mucus production and retention of secretions, this is used to mobilize bronchial secretions
Airway Clearance Therapy
What are some examples of Airway Clearance (4)
- PEP Therapy
- CPT
- Mechanical percussor and postal drainage
- High- frequency chest wall oscillation (HFCWO)
What is the vest therapy called?
High-frequency chest wall oscillation (HFCWO)
May be administered to help w/ atelectasis. What protocol is this?
Lung Expansion Therapy
A variety of bronchodilators and mucolytic agents are commonly used to induce bronchial smooth muscle relaxation and mucous thinning. What protocol is this?
Aerosolized Medication Protocol
In pts w/ CF, Bronchodilators should be given
- Immediately before the pt receives CPT
- Immediately before pt receives inhalation of nebulizer medications
What are recommend bronchodilators for CF?
SABA (albuterol) or LABA (salmeterol or formoterol)
Also anticholinergic agents….
ipratropium bromide and longer acting tiotropium
Mucolytic agents (3)
- Inhaled DNase
- Inhaled hypertonic saline
- Inhaled N- acetylcysteine
Brand name for DNase (dornase alpha)
Pulmozyme
This may be administered to help hydrate thick mucus in the airways in pts w/ CF
Inhaled hypertonic saline
This protocol is justified when acute ventilatory failure is thought to be reversible
Mechanical Ventilation Protocol
These 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 cell
Correctors
These are drugs that 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 cells
Potentiators
Commonly administered to prevent or combat chronic respiratory tract infections
Antibiotics
Inhaled antibiotics widely used to treat P. aeruginosa in Cf includes (2)
- inhaled tobramycin (Bethkis)
- inhaled aztreonam
This is used to slow down the destruction of the lungs
Ibuprofen
Questions from the back
Which of the following organism are commonly found in the TB tree secretions of pts w/ CF (3)
- Staphylococcus
- Haemophilius influzae
- Pseudomonas aeruginosa
When 2 carriers of cystic fibrosis produce children, there is a:
- 25% chance the baby will be completely normal
- 25% chance the baby will have CF
The cystic fibrosis gene is located on which chromosome?
7
In CF the pt commonly demonstrates which of the following? (3)
- Decreased MVV
- Increased RV
- Decreased FEV1/ FVC ratio
During the advanced stages of CF the pt generally demonstrates which of the following? (3)
- Bronchial breath sounds
- Diminished breath sounds
- Hyperresonant percussion notes
About 80% of all pts w/ CF demonstrates a deficiency in which vitamins?
A, D, E, K
What agents targets the underlying cause of CF, the faulty gene G551D, and its defective CFTR protein?
Ivacafor
Which of the following are mucoltic agents (3)
- DNase
- Pulmozyme
- Dornase alpha
With regard to the secretion of sodium and chloride, the sweat glands of pts w/ CF secrete up to:
4 times the normal amount
Which of the following is associated w/ severe CF?
- Increased central venous pressure
- Decreased breath sounds
- Increased pulmonary vascular resistance
What are the gram-positive bacteria seen in CF pts (2)
- Staphylococcus aureus
- Haemophilus influezae
What are gram- negative bacteria found in CF pts (3)
- Pseudomonas aeruginosa
- Stenotrophomonas maltophilia
- Burkholderia cepacian complex
