Cystic Fibrosis Flashcards

1
Q

What is the incidence of CF?

A

1 in 25 carry it
1 in 2500 are sufferers
(autosomal recessive)

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2
Q

What does the CF mutation do?

A

It affects the quantity and function of CFTR channels (Cystic Fibrosis Transmembrane Conductance Regulator)

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3
Q

What does the CFTR do/

A

Sits ont he surface of mucous producing cells and acts as an active transport channel for chloride ions. Essential to maintaining the salt/water balance on the surface.

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4
Q

What is the consequence of abnormal CFTR proteins?

A

Cilia collapse & inflammation leading to bacterial colonisation, mucuous plugging and further airway damage with bronchiectasis.

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5
Q

How are neonates screened for CF?

A
  • Guthrie Test Day 5, bloodspot looking for high IRT (immunereactive trypsinogen)
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6
Q

What happens if there’s a positive guthrie test?

A

The babies genes are analysed for CF genes

If 2 are found CFs suspected and they’re referred to a CF clinic for testing including a sweat test

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7
Q

Whats the point of early CF screening?

A

Allows warning of infections and an improved nutrional status for the sufferer.

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8
Q

What are the common manifestations of CF?

A

Recurrent Bronchopulmonary Infections
Bronchiectasis & progressive airflow obstruction
Pancreatic Insufficiency
Fertility Issues
GI motility, hepatopathy, diabetes, upper airway sinusitis, oseopenia/arthropathy vaginal candiasis.

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9
Q

How does Cf cause a progressive airflow obstruction?

A

Chronic excess sputum production, bronchiectasis and recurrent infections fills the airway with mucous, inflammatory debris/swelling and scarring.

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10
Q

What can occur as a result of the progressive airflow obstruction?

A

Progressive Dyspnoea with eventual respiratory failure

Haemoptysis and Pneumothorax

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11
Q

How do we treat the progressive airflow obstruction caused by CF?

A

We can delay it with bronchodilators and oxygen.
Bilateral Lung Transplants.
Mucolytics and airway clearance techniques can make it easier to clear the mucous.

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12
Q

What are some airway clearance techniques?

A

Percussion & Drainage
Active cycle of breathing
Autogenic drainage

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13
Q

How do we treat/prevent recurrent chest infections?

A

Co-horting and prophylactic antibiotics when very young.
Yearly Flu vaccinations.
Later treat infective exacerbations with large dose multi IV antibiotics (a B-lactam & aminoglycoside)

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14
Q

What happens to a CF sufferer with pancreatic insufficiency?

A

Abnormal pale or orange stools, very offensive and oily.

Failure to thrive, possibly with a fat soluble vitamin deficiency.

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15
Q

How do we treat a pancreatic insufficiency?

A

Enteric Coated Enzyme Pellets
High Energy Diet (Not low Fat)
Fat soluble vitamin & mineral supplements.

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16
Q

How does CF cause male infertility?

A

~95% of CF men have bilateral abscence/blockage of vas deferens.
3 attempts at fertility treatment are given on the NHS.

17
Q

What treatments are there to resolve CF?

A

Bilateral Lung Transplant

Ivacaftor (CFTR potentiator)

18
Q

When would we consider a double lung transplant?

A

When:

  • <30% of predicted FEV1
  • Weight Loss
  • Hypoxia + Hypercapnia
  • Recurrent Worsening Sepsis
  • Worsening Quality of Life
19
Q

What are the absolute no-gos for a lung transplant?

A
Other organ failure
Malignancy within 5 years
Peripheral Vascular Disease
Substance dependancy
Active Systemic Infection
20
Q

How does Ivacaftor treat CF?

A

Its a CFTR potentiator. It binds to CFTR and improves Cl- transport.
Only works on patients with a specific CF mutation (5-10% of them).
Reduces sweat chloride level, feels much better, lung function improves and gains weight.
(180,000 pound pa)