Cystic fibrosis/bronchiectasis -Goya

Question 1

What is Bronchiectasis?

Answer 1

Bronchiectasis is a irreversible dilation and destruction of one or more bronchi with inadequate clearance and pooling of mucus in the airways

Bronchiectasis is characterized by persistent microbial infection and/or inflammatory response

Bronchiectasis is often divided into disorders associated with cystic fibrosis or non-cystic fibrosis forms

Question 2

What tests can be used to distinguish between cystic fibrosis and non-cystic fibrosis bronchiectasis?

Answer 2

Sweat Chloride

Nasal transepithelial potential

Genetic Testing

Question 3

What is the most frequent lethal genetic disease of white Americans?

Answer 3

cystic fibrosis

median survival is not 36.8 years old and >20% are diagnosed after 15 yo

Question 4

What is cystic fibrosis?

Answer 4

an autosomal recessive genetic disorder that affects the transmembrane conductance regulator (CFTR) gene

• chronic bacterial infection of the airways
• disrupts ion transport across epithelial membranes –> airways, sweat ducts, pancreatic ducts and intestine

Question 5

What genetic defect is associated with cystic fibrosis?

Answer 5

• *70% have the deletion of the F508 locus on chromosome 7

- -> defect in chloride conductance causing an increase in Na+ reabsorption

Question 6

What happens in the airway of a CF pt?

Answer 6

Cilia matted down in thick mucus and cannot rid airway of foreign particles.

Necrosis of neutrophils releases DNA and actin–> thick, tenacious mucus

get more bacterial infections and more tissue damage

recurrent bronchitis-> bronchiectasis–> chronic reap failure –> death

Question 7

What is the diagnostic criteria for CF?

Answer 7

One or more clinical features of CF
PLUS

Two CF mutations (used with borderline or normal sweat Cl- valves)
OR
Two positive sweat chloride values (easiest) (>60 in children and > 80 in adults=CF)
OR
An abnormal nasal transepithelial potential difference value

Question 8

Who should a CF mutation screening be offered to?

Answer 8

Should be offered to adults with:

• a positive family history of CF
• partners of people with CF
• couples currently planning a pregnancy
• couples seeking prenatal testing

Question 9

Why are organisms difficult to eradicate once established in the lungs of a CF pt?

Answer 9

Poor penetration of antibiotics into purulent secretions

Native or acquired antibiotic resistance

CF-related defects in mucosal defenses

Alginate produced by mucoid Pseudomonas aeruginosa (most common bug in adults), interferes with phagocytic killing

Question 10

What are some of the signs and symptoms of CF?

Answer 10

resp: Cough
Sputum production, Rhinitis with/without sinusitis, Hemoptysis, Wheezing, Dyspnea, Chest pain, digital clubbing, wheezing, nasal polyps, rales, chest deformity

GI: Pancreatic insufficiency, Abdominal distention, Intestinal obstruction, Heptosplenomegly, Cirrhosis

GU: Bilateral absence or atrophy of the epididymis, vas deferens & seminal vesicles, decreased semen volume & aspermia, infertility rate of 95-97% in males, decreased water content of cervical mucus –> infertility in women.

Question 11

What x-ray findings are common with CF?

Answer 11

• Hyperinflation of CXR
• Increased bronchial markings
• Cyst formation
• Pneumothorax (late complication)
• Subsegmental atelectasis
• Right heart & pulmonary hypertension
• Hilar retractions

Question 12

What is the best predictor of mortality in CF?

Answer 12

The FEV1 is the best predictor of mortality in CF

FEV1 >60% predicted, all alive for next 4 years

FEV1 <35% predicted, 40% will die in next 4 years

Question 13

What are the 3 general principles of CF treatment?

Answer 13

Control of Infections: (oral antibiotics, IV antibiotics, inhaled antibiotics, vaccines)
-influenza and pneumococcal vaccine

Treatment of Inflammation:
-prednisone, azithromycin and ibuprofen (no inhaled corticosteroids!)

Treatment of Airway Obstruction:

• remove secretions (postural drainage/chest percussion, PEP valve, inhalation of 7% hypertonic saline, inhaled DNase
• exercise and breathing exercises to improve cough and increased peak flow rates
• bronchodilators

Question 14

What did azithromycin (macrolide) therapy do in CF?

Answer 14

improve FEV1

fewer exacerbations of CF lung disease

unknown mechanism of action

Question 15

What is used for treatment of plumonary exacerbations in CF pts? maintenance?

Answer 15

IV antibiotics for exacerbations

inhaled for maintenance (colistin, aztrian)

Question 16

How can nutrition affect CF?

Answer 16

malnutrition can worsen CF

CF pts need high calorie, high protein diet, vitamin A, D, E, and K supplements and often pancreatic enzyme supplements

Question 17

What are the chronic therapies for CF?

Answer 17

Inhaled:

• Tobramycin solution twice a day 28 day on-off cycles alternating with either inhaled colistin or azithromycin
• 7% hypertonic saline (pretreat with albuterol)
• Dornase alfa once a day
• Albuterol MDI or LABA

Oral

• Azithromycin 500 mg Mon-Wed-Fri
• Ibuprofen

Chest Physiotherapy

• Daily exercise
• Minimum of once a day when well
• Two or three times a day when ill