Cystic fibrosis Flashcards

1
Q

What are the genetic problems associated with CF

A
  • 1/25 carriers
  • 1 in 2000-2500 live births
  • Commonest mutation 𝚫F508
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2
Q

What type of genetic disorder is CF

A

Autosomal recessive disorder
Most common in Caucasian

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3
Q

Where is the mutation

A

transmembrane conductance regulator protein (CFTR) on Chr 7

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4
Q

What does this protein normally do

A

normal protein allows chloride to move out of cell
no mucus build up

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5
Q

What does a mutated protein cause

A

abnormal protein= chloride stuck in cell
Na+ and H2O stay with chloride
mucus build up outside of cell

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6
Q

What is the effect of mucus build up

A

Mucus collects bacteria
↓ mucociliary clearance
Mucus sticks to mucosa, causing inflammation + ↑ bacterial access which decreases bacterial killing

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7
Q

What are the 6 classification of mutaion in CTFR

A

1-3 severe disease
- Pancreatic insufficient
- 𝚫F508 class 2= severe disease

4-5 milder disease
- Some pancreatic function

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8
Q

What are the complications of CFTR

A

Pancreatic insufficency
Repeated Lung infection
Progressive bronchiectasis
Scarring
Abscesses
Type 2 DM
Osteoporosis

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9
Q

What is the effect of pancreatic insuffeciency

A
  • Lack of pancreatic enzymes (trypsin, colistin)
  • Fat Malabsorption
  • Abnormal stool-steatorrhea
  • Failure to thrive
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10
Q

What is the effect of repeated lung infection

A
  • Pseudomonas aeruginosa
  • Burkholderia cepacia (genomovar III)
  • Non tuberculous mycobacteria
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11
Q

What is the effect of Osteoporosis

A

Decrease bone mineral densisty
Increased fracture risk

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12
Q

What are the other effects of these complications

A

Progressive resp decline
Chronic sputum production
Survival related to FEV1
Increasing SOB

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13
Q

What are some less common complications of CFTR

A
  • Risk of pneumothorax
  • Nail clubbing
  • Male infertility (NO vas deferens)
  • Meconium ileus
  • Haemoptysis due to bronchial wall destruction
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14
Q

What does antenatal testing involve

A
  • Pre-implantation genetic diagnosis
  • Chorionic villus sampling
  • Amniocentesis
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15
Q

What does neonatal testing involve

A

New-born bloodspot day 5 (Guthrie test)
- if +ve-> clinical assessment & sweat test
Sweat test- measure chloride concentration in sweat, >60 mmol/l= abnormal

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16
Q

What are the outcomes of the testing

A
  1. CF
  2. Not CF
  3. CF- screen positive inconclusive diagnosis (SPID)
17
Q

What is the management for CF

A

Uses MDT

18
Q

What is the management for progressive respiratory decline

A
  • Oxygen
  • Nocturnal NIV
  • Lung transplant
19
Q

What is the management for mucus obstruction

A
  • Airway clearance via physio
  • Mucolytics
  • Bronchodilators
20
Q

What is the managment for lung infection

A
  • Antibiotics (oral, IV, nebulised)
21
Q

What is the management for increased inflammation

A
  • Azithromycin
22
Q

What is the management for scarring

A

Symptom management

23
Q

What is the management for pancreatic insufficency

A
  • Replace enzymes
  • High energy diet
  • Fat soluble vitamin + mineral supplement
24
Q

What is the management for type 2 DM

A
  • Insulin (oral drugs not useful)
  • Problem with diet compliance
25
Q

What is the management for osteoperosis

A
  • Bone protection drugs
  • Weight bearing exercise
26
Q

What is the management for haemoptysis

A

Minor - no treatment
Massive, preceded by gurgling in chest
- Admit, resuscitate
- Bronchial angiogram + embolisation

27
Q

What else can be used

A

Segregation and infection control policies

28
Q

What is the effect of modulator drugs

A

KAFTRIO
-> small benefit in lung function
-> ↓ chest exacerbations
-> ↑ weight & QoL