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A2. Respiratory system > Cystic Fibrosis > Flashcards

Cystic Fibrosis Flashcards

1
Q

Describe the inheritance pattern of cystic fibrosis

A

•autosomal recessive trait

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2
Q

What is the disease prevalance?

A

1 : 2,500

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3
Q

Where is the CTFR gene?

A

On the long arm of chromosome 7

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4
Q

What is the commonest mutation for CF?

A

•phe508del (DF508)

–70% N europeans

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5
Q

Look

A
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6
Q

Look

A
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7
Q

What is the function of the CTFR gene?

A

•Active transport channel for chloride

–Regulates liquid volume on epithelial surface

  • Reduced chloride efflux
  • Increased sodium influx via ENaC

–Cilia collapse

–Excessive inflammation

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8
Q

Look

A
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9
Q

What are the clinical features for CF at antenatal, neonatal, infants and young children, older children and adults?

A
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10
Q

What is involved in the neonatal screeing for cystic fibrosis?

A
  • Newborn bloodspot day 5 (Guthrie test)
  • Initial screen - immuno-reactive trypsinogen
  • If positive, mutation analysis performed (5 in Scotland, 4 in rest of UK)
  • Screen positive referred sweat test
  • Both stages miss a proportion of cases
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11
Q

What is mortality in CF?

A

–“Probably” reduces infant mortality

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12
Q

What is lung function in CF?

A

•Lungs

–Wisconsin study no difference in FEV1 at 7-8y (confounding factors may add bias)

–Small Australian study better lung function at 15y

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13
Q

What is the effect of CF on the brain?

A

•Brain

–Vitamin E deficient at diagnosis had lower Cognitive Skills Index and head circumference

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14
Q

What is sweat chloride in CF?

A

Much higher than normal

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15
Q

What is management of CF?

A

–Specialist multi-disciplinary team - since multi-organ disease

Shared care with local clinics

•Primary care

–Surveillance

–Early treatment of infection

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16
Q

What are the effects of CF on Pancreas and Stools and Thrive?

A

•Pancreatic insufficiency (85-90%)

–Abnormal stools

  • Pale or orange
  • Very offensive
  • Greasy or oily

–Failure to thrive

  • May thrive quite well on breast milk
  • May have deficiencies of fat soluble vitamins
17
Q

What is the treatment of pancretic insufficiency?

A

Enteric coated pellets

High energy diet (not - low fat)

Fat-soluble vitamin and mineral supplements

H2 antagonist or proton pump inhibitors*

18
Q

What is the effect of CF on lung pathology?

A

•Recurrent bronchopulmonary infection

–Pneumonitis

–Bronchiectasis

–Scarring

–Abscesses

19
Q

How do control CF pre-infection?

A
  • Segregation/cohorting to prevent cross-infection
  • Airway clearance and adjuncts
  • Mucolytics¶
  • Prophylactic antibiotics (against Staph aureus)¶
  • Annual influenza vaccination

Eradication of early infection imperative

20
Q

What are the common respiratory pathogens in CF?

A

–Staphylococcus aureus and Haemophilus influenzae in early years

–Pseudomonas aeruginosa later

21
Q

What are the less common organisms in CF later in life?

A

•Less common organisms

–Burkholderia cepacia

–Stenotrophomonas maltophilia

–Alcaligenes xylosoxidans

–Atypical mycobacteria e.g. M abscessus

22
Q

What is the treatment of chronic infection?

A
  • Suppress bacterial load¶
  • Treat infective exacerbations (elective v symptomatic use*)
  • Reduce inflammation

–Ibuprofen*

–Azithromycin¶

–Prednisolone

(inhaled antibacterial?) - nebulisers, inhalers?

23
Q

What is predicted median survival for cystic fibrosis in the 21st century?

A

Over 50 years

24
Q

What are the GI manifestations of CF?

A

–Dysmotility

  • Meconium ileus
  • Gastro-oesophageal reflux
  • Distal intestinal obstruction
  • Constipation/rectal prolapse

–Co-existent disease

•Crohn’s and coeliac

Also Hepatopathy

25
Q

What is the affect of CF on upper airways?

A

Upper airway polyps and sinusitis

26
Q

What are the effects of CF on the bones?

A

–Osteopenia

–Arthropathy

27
Q

What are the other manifestations of CF?

A

Diabetes

Heart exhaustino

Bilateral absence of vas deferens

Vaginal candidiasis: Stress incontinence

28
Q

What are airway clearance techniques?

A

Percussion and drainage

Autogenic drainage

Active cycle of breathing

29
Q

What are airway clearance adjuncts?

A
  • Positive expiratory pressure (PEP) mask
  • Cornet/Flutter
  • High frequency chest wall oscillation
30
Q

Why is sputum viscosity increased?

A

•due to DNA released from neutrophils

31
Q

What is the effect of DN-ase (alfadornase)?

A

•breaks down DNA strands

–eases expectoration of purulent secretions

–short to medium term benefit

–expensive

32
Q

What is the efefct of hypertonic saline?

A

–similar efficacy to alfadornase

–short to medium term benefit

–cheap

33
Q
A

A2. Respiratory system (77 decks)

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