Paed: Cystic Fibrosis

Question 1

What is cystic fibrosis

Answer 1

Autosomal recessive genetic disorder
(3300 ppl in aus)

Question 2

Diagnosis of Cystic Fibrosis

Answer 2

1. newborn screening (raised trypsin)

GOLD STANDARD = 2. Sweat test (CL >60 )

3. GENETIC TESTING

Question 3

What issues in CF are amenable to treatment?

Answer 3

1. Antibiotics
2. Mucolytics
3. Enzyme replacement
4. Vitamin supplements

Question 4

CF PK considerations…

Answer 4

1. Recued oral bioavailablity (due to short gut, poor absorption, inflammation)
2. HIGH Vd (higher lean body to adipose tissue)
3. POLYPHARMACY DDI

Question 5

Dosing for aminoglycosides

Answer 5

Once daily dosing,,, enhances bacterial killing

2 different antibiotics

Standard treatment = 14 days

Question 6

Treatments:

Pancreatic insufficiency

Answer 6

Rescued pancreatic enzymes… poor gat absorption

PANCREATIC ENZYME REPLACEMENT THERAPY (Lipase/Amylase)

-with every meal containing fat
-in an acid (apple puree)
- may need PPI to improve absorption

Question 7

Doses of PERT

Answer 7

Pancreatic Enzyme Replacement Therapy

Infants: 2500-5000 IU lipase per breastfeed or formula feed (according to weight)
MAX 10,000/DAY

CHILDREN..
500-4000 /DAY dietary fat

Question 8

Treatment…

Airway clearance

How many times?

Answer 8

Every day 2-3 times

Question 9

Treatment

Prophylaxis?

Answer 9

Anti-straolococcal antibiotics (prophylaxis for up to 3 years old)

Low dose Flucloxacillin

Question 10

Aim when treated pseudomonas aerigionsa?

Answer 10

Aim to ERATICATE! (IV 2 weeks)

Regular swabs or sputum samples every 3 months

Give 2 anti-pseudomonal antibiotics at a time!

Question 11

Benefits of inhaled antibiotics for chronic CF (tobramycin)

Answer 11

• High concentrations in airways
• reduced side effects
• month on, month off (alternate)

Question 12

Side effects of inhaled Tobramycin through Nebuliser (6 years +)

Answer 12

Bronchoconstriction,

First dose admit by clinicians

Question 13

Azithromycin use?

Answer 13

Anti biotic + anti inflammatory
Standard of care for CF

… MUST NOT HAVE MYCOBACTERIUM

Question 14

Mucolytics

Answer 14

rhDNAse = donate alpha = digests DNA in mucous

Hypersonic saline = nebulised 6% saline = hydrates mucous

Question 15

Which treatments help PREVENT LUNG DISEASE

Answer 15

1. Daily airway clearance, mucolytics
2. Anti birth prophylaxis
3. Early and aggressive treatment of bacterial exacerbations

Question 16

Goals for ADEQUATE growth

Answer 16

1. Enzyme Replacement Therapy
2. Monitoring of growth
3. Aim BMI 50% CENTILE
4. High fat diet .
5. Dietary supplements +- gastronomy feeding as needed

Question 17

Name a potentiator

Answer 17

Ivacaftor

Increase flow of ions through activated CFTR

Question 18

Name a corrector

Answer 18

Lumacaftor, tezacaftor

Increases cellular processing and delivery of CFTR proteins

Question 19

Potential cure?

Answer 19

CRISPR - Cas9 gene modifying therapy