Misc Conditions

Question 1

In which gene is the mutation for cystic fibrosis?

Answer 1

Cystic fibrosis trans-membrane conductance regulator

Question 2

What happens if the CFTR doesnt work or isn’t present?

Answer 2

The chloride cant be pumped out, and therefore Na+ losses its inhibition for being pumped over, then it dries out secretions in the lung, gut and pancreas etc resulting in viscous secretions, blocked ducts and infection/inflamation

Question 3

What are the typical symptoms of CF?

Answer 3

• Salty sweat
• Intestinal blockage
• Fibrotic pancreas
• Failure to thrive
• Recurrent lung infections
• Congenital bilateral absence of vas deferent
• Filled sinuses
• Gallbladder and liver disease

Question 4

What are the 5 main types of defect in the CFTR gene in CF?

Answer 4

• 1) No CFTR synthesis
• 2) Trafficking defect
  
  • Protein is made but is an abnormal shape so doesn’t make it to the golgi apparatus for transport
• 3) Dysregulation of the CFTR
  
  • Transports properly and gets to the epithelial surface, but doesn’t open so doesn’t transport ions
  • Increasingly common
• 4) A milder version of the previous
  
  • The CFTR is synthesised, transports and opens – but only opens partially
• 5) Not enough of the protein is made

Question 5

Which type of defect does the G551D mutation (“celtic gene”) result in?

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Answer 5

Type III Mutation - Normal CFTR and delivered to the epithelium normally bur non-functioning channel

Question 6

Which medication can be used for these G551D CF mutations?

Answer 6

Ivacaftor - CFTR Potentiator. Improves Chloride Flow through the CFTR

Question 7

What is the most common CF mutation and how is it treated?

Answer 7

F508del - Treated by lumacaftor in stage iV trials

Question 8

What lung conditions are particular important in newborns?

Answer 8

• Respiratory distress syndroem
• Pneumothorax
• Chronic lung disease
• Diaphragmatic hernia

Question 9

What conditions are important to consider in slightly older children?

Answer 9

• Cystic fibrosis
• Asthma
• TB
• Croup
• Bronchiolitis
• Pneumonia

Question 10

Which lung condition are you thinking with this scneario:
6 week old presented with increased work of breathing and possible apnoea. URTI symptoms over last 2 days

Answer 10

Acute bronchiolitis

Question 11

What is Croup and what is its management?

Answer 11

Viral laryngotracheobronchitis causing stridor and barking cough. It is treated with oral steroid to reduce inflammation

Question 12

Stridor

Answer 12

Predominantly inspiratory wheeze due to large airways (larynx/trachea/major bronchi) obstruction

Question 13

What are some of the causes of stridor in children?

Answer 13

• Infections
• Foreign body
• Anaphylaxis
• Burns
• Chemical inhalation

Question 14

What are some of the causes of stridor in adults?

Answer 14

• Anaphylaxis
• Neoplasms
• Goitre
• Trauma (strangulation/burns/chemicals)
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Question 15

What kind of reaction is anaphylaxis?

Answer 15

Type 1 (immediate) hypersensitivity (IgE)

Question 16

What are some of the symptoms of anaphylaxis?

Answer 16

• Flushing, pruritus, urticaria,
• Angioneurotic oedema (lips, tongue > face, larynx, bronchi)
• Hypotension (vasodilatation and plasma exudation) > circulatory collapse (shock)
• Stridor, wheeze and respiratory failure

Question 17

What is the treatment for anaphylaxis?

Answer 17

• IM adrenaline
• IV antihistamine
• IV corticosteroid
• High flow O2
• Nebulised bronchodilators
• Endotracheal intubation if necessary

Question 18

Sleep apnoea

Answer 18

Episodes of upper airway collapse causing complete or partial obstruction during sleep

Question 19

Which scale is used to categorise the symptoms of sleep apnoea?

Answer 19

Epworth Sleepiness Scale

Question 20

Snoring

Answer 20

Relaxation of pharyngeal dilator muscles during sleep (esp. REM) > Upper airway narrowing, turbulent airflow and vibration of soft palate and tongue base

Question 21

What is the primary management for sleep apnoea?

Answer 21

CPAP (Continuous Positive Airway Pressure)