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Paediatrics finals > Cystic fibrosis > Flashcards

Cystic fibrosis Flashcards

1
Q

Describe the inheritance pattern of cystic fibrosis

A

Autosomal recessive

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2
Q

How many Caucasians are carriers of CF gene?

A

1 in 25

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3
Q

What is cystic fibrosis?

A

Multisystem dysfunction caused by mutation in CF transmembrane conductance regulator gene (CFTR)
Life long and life limiting disease

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4
Q

What is the commonest CF mutation?

A

F508 deletion

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5
Q

What is the CFTR protein?

A

Chloride channel present in numerous epithelial tissues - drives chloride against its concentration gradient using ATP
Present on airway epithelial cells and submucosal glands

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6
Q

What happens when there is a defective CFTR protein?

A

Disruption in chloride ion and sodium movement
Reduces amount of water in secretions
Reduced surface liquid and thicker secretions

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7
Q

Describe the effects of CF in the lungs

A

Reduced clearance and thicker secretions predisposes to more infections
Can lead to bronchiectasis

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8
Q

Describe the effects of CF in the pancreas

A

Pancreatic duct occluded in utero
Permanent damage to the exocrine pancreas
Pancreatic insufficiency

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9
Q

Describe the effects of CF in the GI tract

A

Small intestine viscous mucus causes bowel obstruction in utero - meconium ileus
Biliary tree - cholestasis - neonatal jaundice
Distal intestinal obstruction syndrome later in life

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10
Q

Describe the effects of CF in the reproductive tract

A

Males - absence of vas deferens

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11
Q

What do the clinical features of CF depend on?

A

Age of patient

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12
Q

Describe features of CF in neontaes

A

Meconium ileus
Failure to thrive
Prolonged neonatal jaundice

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13
Q

What does meconium ileus present with?

A

First days of life
Failure to pass meconium
Abdominal distension
Bilious vomiting

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14
Q

Describe features of CF in infants

A

Failure to thrive
Recurrent chest infections
Steatorrhea

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15
Q

Describe features of CF in childhood

A

Nasal polyps
Rectal prolapse
Sinusitis

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16
Q

Describe features of CF in adolescence

A 
DM
Chronic liver disease
DIOS
Gallstones
Liver cirrhosis
17
Q

What are the key aims of management of CF

A

Early treatment of infections

Optimising nutrition

18
Q

Give some examination findings of CF

A

Finger clubbing
Nasal polyps
Chest - hyperinflated, crepitations, portacath
Abdomen - faecal mass (if constipated/DIOS), scar from ileostomy (meconium ileus)

19
Q

How is cystic fibrosis diagnosied

A

Clinical findings + positive sweat test + 2 identified mutations (may support diagnosis)

20
Q

What investigations are useful in CF

A

CXR - hyperinflation and bronchial thickening
Chloride sweat test - at diagnosis and annually if in receipt of CFTR corrector therapy
Microbiological assessment - cough swab/sputum sample
Glucose tolerance test - annual assessment and teenage
Liver function and coagulation - annual assessment
Bone profile - annual assessment
Lung function - spirometry
Faecal elastase - pancreatic function
Chest CT - bronchiectasis
Genetic analysis

21
Q

What is a problem with the chloride sweat test?

A

Baby might be too small so not enough sample may be obtained
False negatives and false positives

22
Q

What concentration of sweat chloride is suggestive of CF?

A

> 60mmol/L

23
Q

Describe the management of CF

A

MDT

Patient and family education

Airway clearance and BD chest physio, mucolytic and DNase (reduces viscosity of mucous by digesting DNA in the sputum), hypertonic saline (can aid airway clearance)

Nourishment and exercise - pancreatic enzyme supplementation (Creon), fat soluble vitamin supplements, monitor growth, dietician input, build up milkshakes to supplement meals

Continuous microbial assessment and 2 weeks of antibiotics to treat respiratory infections even if asymptomatic

Infection control - different clinics for those with different bacteria, side room if admitted

Monitor complications

Annual review

CXR

Glucose tolerance test >age 12

24
Q

What bacteria are common to CF patients?

A

Staphylococcus aureus
Haemophilus influenza
Pseudomonas aeruginosa - can be chronic

25
Q

Which antibiotic has been shown to reduce exacerbations even in patients without chronic Pseudomonas infection?

A

Azithromycin

26
Q

List the complications of CF

A 
Allergic bronchopulmonary aspergillosis
Bronchiectasis
Haemoptysis
Pulmonary hypertension and right heart strain 
Pneumothorax
Respiratory failure
Nasal polyps and sinusitis 
Rectal prolapse
Distal intestinal obstruction syndrome 
CF liver diseases - cholestasis, gallstones and liver cirrhosis 
CF related diabetes 
Delayed puberty 
Arthritis 
Reduced bone mineral density 
Sub/infertilty
27
Q

Describe distal intestinal obstruction syndrome

A

Obstruction at the distal ileum

Colicky abdo pain with mass in RLQ

28
Q

What is CF related diabetes associated with?

A

Rapid decline in lung function and disease progression

Paediatrics finals (37 decks)

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