Resp - Cystic Fibrosis

Question 1

Definition

Answer 1

Autosomal recessive genetic consign affecting mucus glands
Caused by genetic mutation of the cystic fibrosis transmembrane conductance regulatory gene on chromosome 7
- most common is the delta-F508 mutation

Question 2

Consequences of cystic fibrosis

Answer 2

• Thick pancreatic and biliary secretions = blockage of the ducts, resulting in a lack of digestive enzymes such as pancreatic lipase in the digestive tract
• Low volume thick airway secretions = reduce airway clearance, resulting in bacterial colonisation and susceptibility to airway infections
• Congenital bilateral absence of the vas deferens in males. Px have healthy sperm, but the sperm have no way of getting from the testes.

Question 3

Presentation

Answer 3

Px presenting with meconium ileus = not passing meconium within 24 hours, abdominal distension and coming

Question 4

Symptoms

Answer 4

• Chronic cough
• Thick sputum production
• Recurrent respiratory tract infections
• Steatorrhoea = due to a lack of fat digesting lipase enzymes
• Abdominal pain and bloating
• Poor weight and height gain (failure to thrive)

Question 5

Signs

Answer 5

• Low weight or height on growth charts
• Nasal polyps
• Finger clubbing
• Crackles and wheezes on auscultation
• Abdominal distention

Question 6

Other causes of clubbing in children

Answer 6

• Hereditary clubbing
• Cyanotic heart disease
• Infective endocarditis
• Cystic fibrosis
• Tuberculosis
• Inflammatory bowel disease
• Liver cirrhosis

Question 7

Diagnosis

Answer 7

• First line = new born blood spot testing
• Gold standard = sweat test = pilocarpine patch applied to skin with 2 electrodes
  -> chloride conc > 60mmol/L
• Genetic testing for CFTR gene by amniocentesis or chorionic villus sampling

Question 8

Common colonisers of children with CF

Answer 8

• Staphylococcus aureus
• Haemophilus influenza
• Klebsiella pneumoniae
• Escherichia coli
• Burkhodheria cepacia
• Pseudomonas aeruginosa

Question 9

Prophylaxis to prevent staph aureus

Answer 9

Flucloxacillin

Question 10

Pseudomonas Aeruginosa treatment

Answer 10

Nebulised antibiotics = TOBRAMYCIN
- Oral ciprofloxacin is also used

Question 11

Treatment

Answer 11

• Chest physio
• Exercise
• High calorie diet
• CREON tablets
• Prophylactic flucloxacillin
• Bronchodilators (Salbutamol)
• Nebulised DNase (Dornase Alfa) = break down DNA material is respiratory secretions making less viscous
• Nebulised hypertonic saline
• Vaccines = pneumococcal influenza and varicella