CF Flashcards by Jeremiah Sokol

Define CF

A multi-system autosomal recessive disease

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When are the majority of CF cases diagnosed

Before 6 months

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How many different mutations can there be for the CFTR gene

Over 2,400 mutations

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What is the median age of survival for CF

40 years old

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What protein is mutated for CF

Cystic fibrosis transmembrane conductance regulator

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What moves across the membrane without inhibition

Water
CO2
O2

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How are new borns tested for CF

Immunoreactive trypsinogen (IRT)
90% infants

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What is the gold standard for diagnosis of CF

Chloride sweat test

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Who should be tested for CF

Nasal polyps
Sinusitis
Clubbing
Infertility (male)
Obstructive azoospermia

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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)

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What percent of CF Children have intestinal blockage

20%

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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

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Colonizing bacteria with CF

Staphylococcus aureus
Haemophilus influenza
Pseudomonas aeruginosa

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Bacteria specific to CF

Stenotrophomonas maltophilia
Burkholderia cepacia complex

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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

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What causes dysfunction of pancreatic malfunction

Mucus plugging duct

Many have diabetes

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Sweat test that is normal

Equal to or less than 39 mmol/g

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Salt test with possibility of CF

40-50 mmol/g

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Sweat test levels that indicate Diagnosis of CF

Equal or greater than 60mmol/g

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What happens happens to fremitus with CF

It increases with consolidation

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What are colonizer bacteria

Grow in the lung biome without causing symptoms
(Held in check)

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What defines infecting bacteria of CF

If there is some changes unchecked growth
(Mucus feeds)

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What makes CF restrictive

Atelectasis
Bronchiectasis
Over distention of alveoli

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What can happen with advanced CF

Recurrent pneumonia
Chronic bronchitis
Bronchiectasis
Lung abscess

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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

CF Flashcards

(67 cards)