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Year 4 - Paediatrics > Respiratory - Cystic Fibrosis > Flashcards

Respiratory - Cystic Fibrosis Flashcards

1
Q

What is cystic fibrosis?

A

Autosomal recessive condition, affecting the CFTR gene on chromosome 7

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2
Q

What is the most common variant of CF?

A

Delta F508

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3
Q

What does the CFTR gene code for?

A

Chloride channels

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4
Q

How prevalent is CF?

A

1/25 are carriers of gene mutation
1/2500 have CF

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5
Q

What are the key consequences of CF?

A

Thick pancreatic and biliary secretions
- Blocks ducts, causing lack of digestive enzymes e.g. pancreatic lipase

Low volume thick airway secretions
- Reduced airway clearance causing bacterial colonisation
- Susceptibility to airway infections

Congenital bilateral absence of vas deferens
- Patients have healthy sperm
- Sperm have no route from testes to ejaculate
- Male infertility

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6
Q

If two parents are healthy and one sibling has cystic fibrosis, the second child does not have CF, what is the chance of the second child being a carrier?

A

2/3 chance

Autosomal recessive disease, the child doesn’t have CF

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7
Q

How does CF present?

A

Meconium ileus
First sign of CF
First stool baby passes is meconium, should be passed within 24 hours

In 20% with CF meconium is thick and sticky, causing it to be stuck and obstruct the bowel

Causes abdominal distension and vomiting

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8
Q

What is used to screen for CF?

A

New-born bloodspot test

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9
Q

If CF is not diagnosed shortly after birth how does it present?

A

Recurrent LRTIs
Failure to thrive
Pancreatitis

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10
Q

What are the symptoms of CF?

A
  • Chronic cough
  • Thick sputum production
  • Recurrent respiratory tract infections
  • Steatorrhea, lack of fat digesting lipase enzymes
  • Abdominal pain and bloating
  • Child tastes salty (when kissing them) due to concentrated salt in sweat
  • Poor weight and height gain
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11
Q

What are the signs of CF?

A

Low weight or height
Nasal polyps
Finger clubbing
Crackles and wheezes
Abdominal distension

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12
Q

What causes clubbing in children?

A

Cystic Fibrosis
Liver cirrhosis
Tuberculosis
IBD
Infective endocarditis
Hereditary clubbing
Cyanotic heart disease

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13
Q

How is CF diagnosed?

A

Newborn blood spot testing
- Done shortly after birth, picks up most cases

Sweat test
Gold standard

Genetic testing for CFTR gene
Done during pregnancy by amniocentesis or chorionic villous sampling

Blood test after birth

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14
Q

What is the sweat test?

A

Gold standard diagnostic investigation

Patch of skin chosen on arm or leg

Pilocarpine applied to skin patch

Electrodes placed either side of patch and small current passed between them, causing skin to sweat

Sweat absorbed with gauze or filter paper for testing of chloride concentration

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15
Q

What is the diagnostic chloride concentration for CF in the sweat test?

A

More than 60mmol/L

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16
Q

What are some common airway bacterial colonisers in CF?

A

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

17
Q

What are patients given long-term prophylactically?

A

Flucloxacillin

Prevent staphylococcus aureus infection

18
Q

What bacteria worsens prognosis of patients with CF?

A

Pseudomonas aeruginosa

Once colonised, very difficult to get rid of as it becomes resistant to multiple antibiotics

19
Q

Why are children with CF advised to avoid contact with other children with CF?

A

Risk of spreading pseudomonas

20
Q

How is pseudomonas colonisation treated?

A

Long-term nebulised antibiotics e.g. tobramycin

Oral ciprofloxacin also used

21
Q

How is CF managed?

A
  • Chest physiotherapy, to clear mucus and reduce infection and colonisation
  • Exercise, improve respiratory function, help clear sputum
  • High calorie diet, required for malabsorption
  • CREON tablets to digest fats in pancreatic insufficiency, replaces missing lipase enzymes
  • Prophylactic flucloxacillin
  • Treat chest infections
  • Bronchodilators
  • Nebulised DNase (dornase alfa), breaks down DNA in respiratory secretions, making them less viscous and easier to clear
  • Nebulised hypertonic saline
  • Vaccinations
22
Q

What vaccinations are given to children with CF?

A

Pneumococcal
Influenza
Varicella

23
Q

What surgical treatment options are available in CF?

A

Lung transplantation in end-stage respiratory failure
Liver transplant in liver failure
Fertility treatment, sperm extraction
Genetic counselling

24
Q

How often are patients with CF followed up?

A

Every 6 months

25
Q

What is monitored in patients with CF?

A

Sputum, for colonisation of bacteria
Diabetes
Osteoporosis
Vitamin D deficiency
Liver failure

26
Q

What is the average life expectancy in CF?

A

47 years old

27
Q

What is the prognosis of CF?

A

90% develop pancreatic insufficiency
50% develop diabetes and require insulin
30% develop liver disease
Most males are infertile due to absent vas deferens

Year 4 - Paediatrics (150 decks)

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