Lectures: Paediatrics

Question 1

Which protein is important for the movement of chloride ions in and out of the cell:

Answer 1

CFTR protein

Question 2

What are the classes of CF mutation

Answer 2

1. Class 1 - no protein formed
2. Class 2 - some protein formed but does not get to cell membrane to function as protein.
3. Class 3 - gating defect

Question 3

Common mutations in the CF protein:

Answer 3

1. F508del mutation
- removes single amino acid from CFTR protein, so CFTR protein cannot stay in correct 3D shape.
2. Phe508del
- causes abnormal folding and trafficking of CFTR to epithelial cell membrane.

Question 4

What test is used to see if patients have CF?

Answer 4

• Chloride sweat test
  
  • measures amount of chloride in sweat
  • patients with CF —> high amounts of chloride

Question 5

Example of a modulator therapy which goes in an opens up the CFTR protein enabling it to function:

Answer 5

Ivacaftor

Triple therapies

1. Elexacaftor-Tezacaftor-Ivacaftor
   
   • Much better than tezacaftor-ivacaftor on its own

Question 6

Most bronchiolitis is caused by what:

Answer 6

80% caused by RSV.

Question 7

What is bronchiolitis:

Answer 7

• acute inflammation and infection in bronchioles
  
  • epithelial cell destruction
  • cellular oedema
  • airway obstruction by inflammatory debris and mucus

Question 8

When might a paediatric patient require admission ?

Answer 8

1. Under 3 months
2. Any pre-existing condition: Downs, prematurity, CF
3. Having 50-75% less of normal intake of milk
4. Clinical dehydration
5. RR above 70
6. Oxygen sats below 92%
7. Moderate to severe respiratory distress
   
   • deep recessions or head bobbing
8. Apnoea’s

Question 9

High risk babies may be given what as prevention against bronchiolitis caused by RSV

Answer 9

Palivizumab is amonoclonal antibodythat targets therespiratory syncytial virus.

Question 10

Classic cause of croup

Answer 10

• parainfluenza viruses
  
  • can cause upper airway obstruction leading to stridor and respiratory distress
  Others
  • influenza
  • adenovirus
  • RSV

Question 11

Mild, moderate and severe croup

Answer 11

MILD
- Barking cough, but no stridor or signs of resp distress

MODERATE
- Barking cough + stridor and signs of respiratory distress
- No agitation or lethargy

SEVERE
- Barking cough with stridor and signs of resp distress

Question 12

What signs might indicate impending respiratory failure

Answer 12

Impending respiratory failure

• Resp rate over 70
• Asynchronous chest wall and abdominal movement
• pallor / cyanosis
• decreased level of consciousness

Question 13

What scoring system may be used to score Croup

Answer 13

Westley croup severity score

Question 14

Management of croup in primary care:

Answer 14

• Single dose of oral DEXAMETHASONE (0.15mg/kg) STAT
• Encourage paracetamol and ibuprofen
• Encourage oral fluid intake
• Advise parents to check on child through the night
• Symptoms should resolve within 48 hours

Question 15

Management of croup in secondary care:

Answer 15

1. Moderate
   
   • Oral dexamethasone (0.15mg/kg) can be repeated after 12 hours
   • Observe for 2-3 hours and if asymptomatic at rest, then home with safety netting
2. SEVERE
   
   • Oraldexamethasone (IV, can be repeated after 12 hours)
   • Oxygen
     - Nebulisedbudesonide
   • Nebulisedadrenalin (5ml of 1/1000)
   • Intubationandventilation