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Respiratory > Cystic Fibrosis > Flashcards

Cystic Fibrosis Flashcards

1
Q

Is CF autosomal recessive or dominant?

A

Autosomal recessive

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2
Q

What is a recessive disease?

A

Occurs when you inherit 2 mutated genes, one form each parent
Healthy allele compensates effect of mutant allele
Homozygous state

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3
Q

What is the percentage of respiratory death being cause of death in CF?

A

90%

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4
Q

What is the most common autosomal recessive disorder in Caucasians?

A

Cystic Fibrosis

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5
Q

If both parents are carriers of CF mutant allele then what is the chance of inheritance?

A

1 in 4 chance will be infected
2 in 4 chance if carrier
1 in 4 of unaffected

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6
Q

What mutation is CF due to?

A

Mutation in the transmembrane conductance regulator protein (CFTR) which is coded on the 7th chromosome

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7
Q

What chromosome if the CFTR protein coded on?

A

Chromosome 7

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8
Q

What does the mutation in CFTR cause?

A

Abnormal function of the protein channel so chloride is trapped in the cell.
Sodium and water follow chloride and flow into cell

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9
Q

What are the consequences of abnormal function of protein channel?

A

Dehydrates airway surface liquid and mucous layer
Tick mucous sticks to mucous layer and causes shearing
Difficult to cough up
Mucous collects bacteria so there is a reduced ability to fight infection

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10
Q

How many mutation classes of CFTR are there?

A

6 classes

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11
Q

What is the commonest mutation of CFTR?

A

deltaF508 which is a class 2 mutation

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12
Q

What does 1 - 3 mutation classes give?

A

Severe disease as no functioning protein

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13
Q

What does 4 - 6 mutation classes give?

A

Milder disease as some functioning protein

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14
Q

What is antenatal testing?

A

This is before birth following indication of CF parent or sibling

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15
Q

What are the types of antenatal testing for CF?

A

Pre-implantation genetic diagnosis
Chorionic villous sampling
Amniocentesis

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16
Q

What is neonatal screening?

A

Just after birth

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17
Q

What is the neonatal screening used to diagnose CF?

A

Guthrie test - new-born bloodspot on day 5
If screen positive refer for assessment and sweat test

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18
Q

When does sweat tests happen?

A

Postnatally at any time

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19
Q

Explain sweat testing

A

Measures the conc. of chloride excreted in sweat. Chloride conc. is elevated in CF patients
Less reliable in adults and infants under 6 months old

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20
Q

What is an abnormal sweat chloride conc.?

A

> 60 millimoles per litre
High chance of CF

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21
Q

What is another postnatal test for CF that is not sweat testing?

A

faecal elastase

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22
Q

What are the 3 possible outcomes for prenatal, antenatal and postnatal testing?

A

CF, Not CF or CF - screen positive inconclusive diagnosis (SPID)

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23
Q

What part of the body does CF affect?

A

Can affect any part of the body as a multi-system disease

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24
Q

Where are the main conditions of CF?

A

Pancreatic insufficiency
Diabetes
Infection and bronchiectasis

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25
Q

Explain pancreatic insufficiency

A

CFTR affects pancreas
Pancreas produces enzymes that digest food but there is a lack of these enzymes (trypsin and colistin)

26
Q

What does a lack of the enzymes trypsin and colistin cause?

A

Malabsorption
Abnormal stools - pale, offensive and float
Failure to thrive so Importance of growth records and growth charts

27
Q

What does class 1-6 have on level of pancreatic insufficiency?

A

Class 1-3 are pancreatic insufficient
Class 4-6 have some pancreatic function

28
Q

How much CFTR function do you need for sufficient pancreatic function?

A

5% CFTR function
Can be asymptomatic

29
Q

What can result from recurrent chest infections?

A

Pneumonia
Bronchiectasis
Scarring
Abscesses

30
Q

What does abnormal electrolyte transport across the membrane cause?

A

Dehydration of airway surface layer - mucus cant easily slide up and be coughed up
This decreases muco-ciliary clearance

31
Q

What happens when there is decreased muco-ciliary clearance?

A

Mucous sticks to mucosal surface and causes shearing and inflammation
Increases access to bacteria and decreases killing of bacteria

32
Q

Explain the cycle of events that cause repeated resp. infections?

A

Decreased muco-ciliary clearance and killing of bacteria and increase in bacteria adherence -
Bacterial colonisation -
Inflammation, Mucus plugging, airway ulceration and damage -
Bronchiectasis - repeat

33
Q

Explain bronchiectasis

A

Airways become thickened, dilated and stiff - retain mucous which becomes infected and impairs O2 exchange

34
Q

What happens to respiratory of patient with CF?

A

Progressive respiratory decline occurs
Progressive airway obstruction and can lead to respiratory failure

35
Q

What is the clinical sign of progressive bronchiectasis?

A

Chronic sputum production - cupfulls

36
Q

What does a CT scan show in a patient with CF?

A

Tramlines
Signet rings
Mucous plugging
Consolidation - infection

37
Q

What is a clinical presentation of CF?

A

Clubbing as result of low O2

38
Q

Who is involved in the treatment of CF?

A

CF is a multiorgan disease and needs MDT to improve long term outcome - shared care is essential

39
Q

What is the treatment for pancreatic insufficiency in CF?

A

Aim is to boost nutrition
1. Replace enzymes - Creon
2. Diet - high energy and calorie with supplement drinks
3. Nutritional supplements - fat soluble vitamins and minerals

40
Q

Explain treatment of mucus obstruction and inflammation

A

Airway clearance via physiotherapy, mucolytics and bronchodilators

41
Q

What is the treatment for infection in a patient with CF?

A

Antibiotics - oral, IV or nebulised

42
Q

What is the treatment for increased inflammation?

A

Azithromycin - can be used as main term treatment if at lose dose

43
Q

What is the treatment for fibrosis/ scarring/ bronchiectasis?

A

Supportive treatment and management of symptoms are irreversible

44
Q

Explain diabetes and CF

A

Type of diabetes and management differs from non CF patient
Need joint Diabetic/ CF clinics and CF dietician is vital

45
Q

What is the commonest type of diabetes seen in CF?

A

Not enough insulin from the pancreas or insulin is not working properly

46
Q

Explain osteoporosis in CF patients

A

Bone mineral density falls in patients with CF - slower gain and faster loss.
Increased risk of fractures and can exclude lung transplant

47
Q

What are some predictors of low BMD?

A

Low FEV1, frequent antibiotic courses, steroids, malnutrition, low exercise, age, male, diabetes, vit D deficiency and delayed puberty

48
Q

Explain pneumothorax and CF

A

Affects 3-4% of CF patients in their lifetime
Treatment is same as other patients which is insertion of chest drains or using aspiration to reflate lung

49
Q

What causes haemoptysis in patients with CF?

A

Bronchial wall destruction causing coughing of blood

50
Q

What is treatment for minor and massive haemoptysis?

A

Minor - blood streaking so no
specific treatment
Massive - Admit and resuscitate, may need bronchial angiogram and embolization

51
Q

What is the drug burden on CF patients?

A

High drug burden
Can be around 37 drugs and Creon alone is like 30-40 tablets a day

52
Q

What are the bacteria that is a contraindication to lung transplant?

A

Burkholderia Cenocepacia
as poor survival
M. Abcessus as highly resistant and grows rapidly

53
Q

What does the new modulator drugs target?

A

Addresses different parts of CFTR production, processing, folding, transport and insertion into membrane

54
Q

What does Kaftrio modulator drug do?

A

Small benefits in lung function
Main benefits are fall in chest exacerbations, rise in weight and improved QoL

55
Q

What are the new modulator drugs?

A

Kalydeco
Orkambi
Symkevi
Kaftrio

56
Q

What are indications for lung transplantation?

A

Rapidly deteriorating lung function
FEV1 < 30% predicted
Life threatening exacerbations
If estimated survival is less than 2 years
Recurrent pneumothorax and severe haemoptysis

57
Q

What are some absolute contra-indications to transplant?

A

Other organ failure, malignancy within 5 years, significant peripheral vascular disease, drug nicotine or alcohol dependency, active systemic infection or microbiological issues

58
Q

What are some relative contra-indications where clinical judgement is needed?

A

Other organ dysfunction, non-compliance, high dose of steroids, osteoporosis, low or high BMI, previous thoracic surgery and psychological

59
Q

Why has survival median for patients with CF got better?

A

CF centres, MDT, Physiotherapy, nutrition/enzymes, abx, aggressive approaches and annual flu/ pneumococcal

60
Q

What are other things to consider which can improve QoL?

A

Oxygen and NIV at home
Exercise
Support
Advanced care plans and DNAR discussions

Respiratory (24 decks)

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