CF Flashcards
Define CF
A multi-system autosomal recessive disease
When are the majority of CF cases diagnosed
Before 6 months
How many different mutations can there be for the CFTR gene
Over 2,400 mutations
What is the median age of survival for CF
40 years old
What protein is mutated for CF
Cystic fibrosis transmembrane conductance regulator
What moves across the membrane without inhibition
Water
CO2
O2
How are new borns tested for CF
Immunoreactive trypsinogen (IRT)
90% infants
What is the gold standard for diagnosis of CF
Chloride sweat test
Who should be tested for CF
Nasal polyps
Sinusitis
Clubbing
Infertility (male)
Obstructive azoospermia
What happens with CFTR mutations
In the airway, Chloride is trapped in the cells and sodium flows in along with water
In the sweat glands, chloride can enter causing excessive chloride and sodium in sweat (4x)
What percent of CF Children have intestinal blockage
20%
What does the meconium tell us about a infant with CF
If it have a ileus (blockage) they may have CF
Do to pancreatic malfunction
Colonizing bacteria with CF
Staphylococcus aureus
Haemophilus influenza
Pseudomonas aeruginosa
Bacteria specific to CF
Stenotrophomonas maltophilia
Burkholderia cepacia complex
What do infants suffer from with CF
Poor weight gain
Failure to thrive (FTT)
Multiple respiratory infections a year
Consistent cough with sputum
Pancreatic insufficiency
What causes dysfunction of pancreatic malfunction
Mucus plugging duct
Many have diabetes
Sweat test that is normal
Equal to or less than 39 mmol/g
Salt test with possibility of CF
40-50 mmol/g
Sweat test levels that indicate Diagnosis of CF
Equal or greater than 60mmol/g
What happens happens to fremitus with CF
It increases with consolidation
What are colonizer bacteria
Grow in the lung biome without causing symptoms
(Held in check)
What defines infecting bacteria of CF
If there is some changes unchecked growth
(Mucus feeds)
What makes CF restrictive
Atelectasis
Bronchiectasis
Over distention of alveoli
What can happen with advanced CF
Recurrent pneumonia
Chronic bronchitis
Bronchiectasis
Lung abscess
Harm of defected pancreas function due to CF
Deficiency in fat soluble vitamins
Diarrhea
Malnutrition
Failure to thrive
Musculoskeletal disorders associated with CF
Reduction of bone density
Kyphosis
Malabsorption of vitamin D
Poor nutrition
Reproductive dysfunction associated with CF
Women have decreased fertility
(Thick mucus in cervix)
Infertility in men
Lack of sperm
(Missing of underdeveloped vas deferens)
Upper airways associated with CF
Sinusitis
Nasal polyps
Liver disorders associated with CF
Cirrhosis
Neonatal jaundice
Gallbladder disorder associated with CF
Cholelithiasis
Salivary gland abnormalities associated with CF
Altered electrolyte concentration in secretions
What two test do all new borns get for CF
Serum immunoreactive trypsinogen
DNA analysis for mutations in CFTR
What four test are down after newborn screening?
Sweat chloride
Nasal potential difference
Stool fecal fat testing
Fecal elastase test
Explain sweat chloride test
Small amount of pilocarpine (chemical to produce sweat) is applied to the arm or leg
Electrode is attached to area
Mild current
Preformed twice
Who gets sweat chloride test
Siblings who are confirmed
Siblings with symptoms
Positive screening
Explain nasal potential difference
A voltmeter is used to measure charge
Nasal passage has different salt placed
Differing salts should provoke predictable movement across epithelial membrane
Abnormal (CF)
Explain fecal elastase test
Measure levels of fecal elastase-1enzyme
Give info on pancreas
Explain stool fecal fat test
Measures levels of fat in stool
Who gets nasal potential difference test
Patients with symptoms
Have borderline or normal sweat test
Non-diagnostic CF genotype
What are prenatal CF test
If mother is positive for mutation, test father
Amniocentesis (first trimester)
Can tell if: carrier, normal, affected
What is the likelihood two carriers have a CF child
25%
What is the likelihood that a CF person with a carrier have a CF child
50%
What is the likelihood that a CF parent with a non-CF partner have a CF child
0
100% carrier
What is the likelihood that a non CF carrier and a carrier have a CF child
50% carrier
Bronchopulmonary hygiene for CF
Mucus clearance:
HFCWO 20-30 mins (2x)
Active cycle of breathing technique
Autogenic
Huff cough
Exercise
Order to deliver medication for CF patients
SABA
Hypersonic saline
Mucus clearance (Dorsa Alfa)
Inhaled antibiotics
Symbicort
Why is Dornase Alfa more appropriate for CF patients
They have 45% less mucin
416% more DNA
When is hypertonic saline useful for a CF patient
Equal or younger than 6 years old
(3-7%)
Can you mix hypertonic saline and Dornase Alfa
No, hypertonic saline inactivates Dornase Alfa
What is inhaled mannitol
Unknown how it works
Hydrates AW like NAC
(Dry powder)
Antibiotics for CF
Tobi
Cayston
How is cayston used for CF patients
Proprietary Altera Nebulizer system
What are the possible complications for CF patients taking persistent ABX
Bacteria become resistant
Thrush and fungal disease (whip out normal flora)
How is ibuprofen used for CF patients
High dose impede lung decline <18
<18 w/ FEV1 >60%
50-100mcg/mL
Side effects of high dose ibuprofen for CF patients
Painless gastrointestinal bleeding
What CF patients get Azithromycin
With Chronic Pseudomonas areuginosa
corticosteroids recommended for CF patients
Not unless they have reactive AWs
Allergic bronchopulmonary aspergillosis
Are glucocorticoid recommended for CF patients
Asthma
Allergic bronchopulmonary aspergillosis
What anti-inflammatory drugs have insufficient evidence treating CF
Leukotriene modifiers
NAC (oral)
Inhaled glutathione
What’s the hazard to lung transplant for CF patients
Immunosuppressant medication may allow pseudomonas aeruginosa and burkholderia cepacia complex
What do new CF meds do
Correct mutations
What do corrector CF meds do
Help mutated CFTR reach epithelial surface
What do potentiator meds do for CF patients
Improves the function of CFTR cells that have reached epithelial surface
Specific mutations
What is the oral potentiator to remember
Ivacaftor (kalydeco)
What is Orkambi
A potentiator med
Reduce risk of exacerbation by 30-39% in qualified patients
What is symdeko
A potentiator
What is trikafta
A potentiator
