cystic fibrosis

Question 1

Cystic Fibrosis (CF) results in a syndrome of ______.

Answer 1

chronic sinopulmonary infections and nutritional abnormalities secondary to malabsorption

Question 2

CF inheritance

Answer 2

autosomal recesssive

Question 3

Most individuals with CF develop:

Answer 3

obstructive lung disease associated with chronic infection that leads to progressive loss of pulmonary function and ultimately death from respiratory failure.

Question 4

Currently, the median life expectancy for people living with CF in the US is

Answer 4

37 years.

Question 5

CF is caused by a defect in an _____.

Answer 5

ATP-binding cassette transporter gene on chromosome 7 that encodes for the CF Transmembrane Conductance Regulator (CFTR) protein

Question 6

The CFTR protein is an_____.

Answer 6

epithelial chloride channel that also has signaling effects on other membrane channels

Question 7

The most common mutation is the ______.

Answer 7

F508del

Question 8

How many mutation in CF have been found?

Answer 8

1500 other disease-causing mutations in the CF gene have been identified.

Question 9

Gene mutations lead to defects or deficiencies in _____, causing problems in _______.

Answer 9

CFTR

salt and water movement across cell membranes, resulting in abnormally thick secretions in various organ systems and critically altering host defense in the lung

Question 10

CF is now included in the

Answer 10

newborn screening program for all states in the US, and many countries world-wide.

Question 11

Typical features of CF:

Answer 11

1. Greasy, bulky, malodorous stools; failure to thrive due to exocrine pancreatic insufficiency
2. Recurrent respiratory infections with opportunistic bacteria (e.g. Staphylococcus aureus, Pseudomonas aeruginosa and Burkholderia cepacia)
3. Chronic sinus infections
4. Digital clubbing on examination.
5. Bronchiectasis
6. Sweat chloride > 60 mmol/L.

Question 12

Due to ______, most children in the US with CF are identified soon after birth.

Answer 12

widespread adoption of CF newborn screening in the past decade

Question 13

The most common presentation of CF is ______.

Answer 13

failure to thrive

Question 14

However, older children born prior to newborn screening, and those missed by the screen (false negative rate ranges from _____) may present with clinical symptoms later in life.`

Answer 14

1-5%

Question 15

Children typically present with_____.

Answer 15

1. fail to gain weight despite good appetite

2. have frequent, bulky, foul-smelling, oily stools

Question 16

symptoms of CF are a result of

Answer 16

1. severe exocrine pancreatic insufficiency
2. the failure of the pancreas to produce sufficient digestive enzymes to allow breakdown and absorption of fats and protein.

Question 17

Pancreatic insufficiency occurs in

Answer 17

more than 85% of persons with CF.

Question 18

Infants with undiagnosed CF may also present with

Answer 18

1. hypoproteinemia with or without edema
2. anemia
3. deficiency of the fat-soluble vitamins A, D, E, and K, because of ongoing steatorrhea.

Question 19

CF should also be considered in infants and children who present with ______.

Answer 19

1. severe dehydration

2. hypochloremic metabolic alkalosis

Question 20

Other findings that should prompt a diagnostic evaluation for CF include:

Answer 20

1. unexplained bronchiectasis
2. rectal prolapse
3. nasal polyps
4. chronic sinusitis
5. unexplained pancreatitis
6. cirrhosis

Question 21

Approximately __% of newborns with CF present at birth with _____.

Answer 21

15%

1. meconium ileus
2. a severe intestinal obstruction resulting from inspissation of tenacious meconium in the terminal ileum

Question 22

Infants with meconium ileus should be

Answer 22

treated presumptively as having CF until a sweat test or genotyping can be obtained

Question 23

From a respiratory standpoint, clinical manifestations include

Answer 23

productive cough, wheezing, chronic bronchitis and recurrent pneumonias, progressive obstructive airways disease, exercise intolerance, dyspnea, and hemoptysis.

Question 24

Chronic airway infection with bacteria, including _____, often begins in the ____.

Answer 24

S aureus and H influenzae

first few months of life, even in asymptomatic infants

Question 25

Eventually, _____ becomes the predominant pathogen.

Answer 25

Pseudomonas aeruginosa

Question 26

Acquisition of the characteristic mucoid Pseudomonas is associated with _____.

Answer 26

a more rapid decline in pulmonary function

Question 27

Chronic infection leads to ____

Answer 27

airflow obstruction and progressive airway and lung destruction resulting in bronchiectasis.

Question 28

pulmonary exacerbation:

Answer 28

An acute change in respiratory signs and symptoms from the subject’s baseline

Question 29

Clinically, an exacerbation is typically manifested by:

Answer 29

1. increased cough and sputum production,
2. decreased exercise tolerance
3. malaise
4. anorexia.

These symptoms are usually associated with decreased measures of lung function, new chest radiographic findings, or both.

Question 30

Treatment for pulmonary exacerbations generally consists of

Answer 30

antibiotics and augmented airway clearance and often requires hospitalization for 1-2 weeks

Question 31

Treatment:

Answer 31

1. Management of exocrine pancreatic insufficiency
2. Daily salt supplement due to salt losses in sweat
3. Airway clearance treatment to loosen and remove thick mucus from airways
4. Antibiotic therapy targeting common CF related bacteria such as P. aeruginosa
5. Anti-inflammatory treatments
6. CFTR modulators

Question 32

How do you manage of exocrine pancreatic insufficiency?

Answer 32

1. enzyme supplementation
2. high calorie
3. high protein
4. high fat diet
5. fat soluble vitamin supplements.

Question 33

Airway clearance treatment to loosen and remove thick mucus from airways:

Answer 33

1. Daily percussive therapy (Chest PT, vest therapy)
2. Recombinant human DNAse (Pulmozyme), an inhaled mucolytic agent
3. Inhaled hypertonic saline
4. Bronchodilators

Question 34

Antibiotic therapy targeting common CF related bacteria such as P. aeruginosa:

Answer 34

1. Inhaled tobramycin (TOBI)
2. Inhaled aztreonam (Cayston)
3. Oral or intravenous antibiotics

Question 35

Anti-inflammatory treatments

Answer 35

1. Ibuprofen (high dose)

2. Chronic azithromycin

Question 36

CFTR modulators

Answer 36

1. Ivacaftor (CFTR potentiator) – Only approved for people age 6 years or older with at least one G551D mutation or gating mutation
2. Lumacaftor/ Ivacaftor combination therapy (CFTR corrector/ potentiator) for people ages 12 years or older with 2 copies of the F508del mutation is currently undergoing review with the FDA.

Question 37

Lung transplantation may be performed in those with

Answer 37

end-stage lung disease