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Respiration > Cystic fibrosis > Flashcards

Cystic fibrosis Flashcards

1
Q

What is the genetics of cystic fibrosis?

A

Autosomal recessive disorder

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2
Q

If both parents are carriers what are the chances that children will have CF, not have and be a carrier of CF?

A

1 in 4 chance child has CF
2 in 4 chance child is a carrier
1 in 4 chance child is unaffected

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3
Q

Why does CF occur?

A

CF occurs due to mutation in the transmembrane conductance regulator protein (CFTR) which is coded in chromosome 7.

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4
Q

What does a defected CFTR protein result in?

A

Abnormal transport of chloride and sodium causing:
- Reduced airway surface liquid (dehydrates mucous layer)
- Thick sticky mucous
- Shearing
- Impaired bacterial killing via neutrophils

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5
Q

How is CF tested for?

A

Antenatal testing
Neonatal screening
Sweat test

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6
Q

What does antenatal testing involve?

A

Pre-implantation genetic diagnosis
Chorionic villous sampling
Amniocentesis
- Amniotic fluid removed and tested

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7
Q

What does neonatal screening involve?

A

Newborn heal prick on day 5
Guthrie test
- If positive refer for clinical assessment and sweat test

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8
Q

What does a sweat test measure and the results in CF patients?

A

Measures concentration of chloride excreted in sweat.
In CF patients this is elevated
(>60 millimoles per litre is abnormal)

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9
Q

What effect does CF have on the body?

A

Makes all fluid in the body thicker
(mucous, semen, tears etc.)

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10
Q

How does CF affect the lungs?

A

Infection and bronchiectasis
Haemoptysis
Pneumothorax
Asthma fungal infection
Respiratory fatigue
Cor pulmonale

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11
Q

What effect does CF have on nutrition?

A

Increased energy need with a reduced intake
- leads to difficulty gaining and keeping weight on
Vitamin deficiency

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12
Q

What effect does CF have on the reproductive system?

A

Male infertility
Pregnancy
Delayed puberty

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13
Q

What effect does CF has on the GI and liver?

A

Pancreatic insufficiency
Diabetes
Liver disease
Meconium Ileus
Cirrhosis, portal HT
Malabsorption
GI dysmotility
Distal intestinal obstruction
Reflux
Coeliac disease

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14
Q

What are some other effects of CF?

A

Vasculitis
Arthropathy
Osteoporosis
Clubbing
Psychological
Sinusitis/polyps

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15
Q

How is the pancreas effected?

A

The CFTR mutation causes the pancreas to insufficiently produce enzymes that digest food.

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16
Q

What does pancreatic insufficiency result in?

A

Malabsorption
Abnormal stools - pale, offensive, float
Failure to thrive (grow)

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17
Q

How many classes of CF disease are there?

A

6 classes
1-3 = severe disease
4-6 = milder disease

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18
Q

How many levels of pancreatic function are there in CF patients and what are they?

A

6
1-3 = pancreatic insufficient
4-6 = some pancreatic function

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19
Q

What recurrent chest infections are more likely?

A

Pneumonia
Bronchiectasis
Abscess

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20
Q

What happens in bronchiectasis?

A

Airways become dilated and thickened
- become stiff and cant clear mucous
Mucous then becomes infected and impairs O2 exchange.

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21
Q

Why does pulmonary infection occur?

A

The CFRT abnormality causes:
- Abnormal electrolyte transport across cell membrane.
- Dehydration of airway surface layer (water later which allows mucous to slide easily up airway to be coughed up)
- Decreased mucociliary clearance
- Mucous sticks to mucosal surface of causes shearing damage
- Increased bacterial adherence
- Decreases bacterial killing
- Result = more prone to chest infections

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22
Q

What is the circle of events leading to recurrent chest infections in those with CF?

A

Bacterial colonisation
»> Inflammation, mucus plugging, airway ulceration, airway damage
»> Bronchiectasis
»> Decreased mucocillary clearance, increased bacterial adherence, decreased endocytosis of bacteria
»> Bacterial colonisation

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23
Q

What occurs in progressive respiratory decline?

A

Progressive bronchiectasis = chronic sputum production
Recurrent respiratory tract infections
Progressive airflow obstruction
Respiratory failure

24
Q

What is progressive airflow obstruction?

A

Increasing exertional dyspnoea
Survival is related to FEV1
Multiple drugs

25
Q

What is the difference between type 1 and type 2 respiratory failure?

A

Type 1 = Decreased PaO2
Type 2 = Decreased PaO2 and increased PaCO2

26
Q

How is respiratory failure treated?

A

Oxygen
Nocturnal NIV
Lung transplant in some

27
Q

What does a CXR look like in a CF patient?

A

Lungs aren’t clear
Fluffy/marshmallowy patches

28
Q

What does a CT scan look like in a CF patient?

A

Tramlines = thickened dilated airways that cant clear mucous
Signet ring = cross section of a tramline
Mucous plugging
Consolidation (infection)

29
Q

What is a peripheral sign of CF and why does it occur?

A

Finger clubbing
- Result of low O2 in blood
- Can be familial

30
Q

What are the different types of diabetes and which is most common in CF patients?

A

Type 1 = No insulin is made
Type 2 = Not enough insulin from pancreas or insulin is not working properly

CF = Type 2

31
Q

What are some issues specific to CF diabetes?

A

Compliance with diet
- Need high calorie diet unlike non-CF diabetics
Insulin is of benefit

32
Q

How is osteoporosis related to CF?

A

Bone mineral density falls in patients with CF
- Slower gain and a faster loss

33
Q

What are the effects of osteoporosis in CF?

A

Increased risk of fractures
May exclude lung transplant
- After transplant youre given a high dose of steroids which further thin your bones

34
Q

What are some treatments for osteoporosis?

A

Bone protection drugs
Weight baring exercise

35
Q

How does pneumothorax relate to CF?

A

Affects 3-4% of CF patients during their lifetime
- Greater occurrence in older more severe obstructive lung disease

36
Q

Why does haemoptysis occur in CF?

A

Due to bronchial wall destruction

37
Q

What would major haemoptysis look like?

A

Large amount of blood over a short period of time
May be preceded by gurgling in chest

38
Q

How is a major haemoptysis treated?

A

Admit to hospital, resuscitate
May need bronchial angiogram and embolization (look for source of bleeding and block it off)

39
Q

What are some risk factors for haemoptysis?

A

Severity of CF
High number of exacerbations
Fungal lung infections
Liver disease, vit K deficiency or on anticoagulant (all can thin blood)

40
Q

Name some people involved in the MDT care of a CF patient?

A

Physician
Nurse specialist
Physiotherapist
Dietician
Psychologist
Pharmacist
Lung function physiologist
Microbiologist
Gastroenterologist
Diabetes
Primary care

41
Q

How do you treat pancreatic insufficiency in CF?

A

Replace enzymes with Creon capsules
- Have to take 40/50 a day
Diet
- High energy plus high calorie supplement drinks
- Not low fat
Nutritional supplements
- Fat-soluble vitamin and mineral supplements

42
Q

What different aspects of CF are treated?

A

Mucous obstruction inflammation
Infection
Increased inflammation
Fibrosis/scarring/bronchiectasis

43
Q

How is mucous obstruction inflammation treated?

A

Airway clearance via physiotherapy
Mucolytics
- Make mucous thinner and easier to cough up
- Nebulised hypertonic saline/pulmosine
- Inhaled broncho Tol
Bronchodilators
- Inhalers e.g. salbutamol

44
Q

How do you treat infections in CF?

A

Antibiotics

45
Q

How do you treat increased inflammation in CF?

A

Azithromycin
- Can be used at low dose long term
- Reduces the number of infective exacerbations of CF

46
Q

How do you treat fibrosis/scarring/bronchiectasis in CF?

A

Supportive treatment and management of symptoms
- Oxygen
- Home ventilation NIV
- Psychological support
- benefits/social issues

47
Q

What is the social, educational and economic impact on children and family of CF?

A

Barriers to making friends
- Cough
- Missing school
- Different dietary requirements
- Taking drugs
Increased anxiety/depression
Low adherence to time-consuming treatments
Siblings
Increased cost to the family
- Time off work/hospital attendances
- Financial costs

48
Q

What is the social, educational and economic impact on adults with CF?

A

Transition from child care team to adult
Restriction on careers and hobbies
Transport costs
Large number of drugs - compliance
Missing work
Cross infection
Co-morbitities
Psychological
- Aware of prognosis
- Promise (and cost) of new drugs
- Media/social media pressure and misinformation

49
Q

What is the drug burden of a CF patient like?

A

Very high
- Roughly 37 types of drugs
- 30-40 capsules of Creon a day
- Nebulising treatment; 30min-1hr, done more than once a day
- Airway clearance; 15-20mins done 2/3 times a day

50
Q

What are the indications a patient needs a transplant?

A

Rapidly deteriorating lung function
FEV1 <30% predicted
Life threatening exacerbations
Estimated survival <2years

51
Q

What is the role of a lung transplant in CF patients?

A

A measure to prolong survival and improve quality of life (not a miracle cure)

52
Q

What are some factors that would prevent a patient receiving a lung transplant?

A

Other organ failure
Malignancy within past 5 years
Significant peripheral vascular disease
Drug, nicotine, alcohol dependency
Active systemic infection
Microbiological issue

53
Q

What factors would you have to use clinical judgement on when deciding whether to give a lung transplant or not?

A

Other organ dysfunction
Non-compliance
Steroids >20mg daily
Absence of recognised social support
Osteoporosis
Low or high BMI
Surgical risks (previous thoracic surgery)
Psychological instability

54
Q

How can type of bacteria affect median survival?

A

If colonised = median survival falls
If not colonised = median survival is around 40

55
Q

Why has median survival for CF improved?

A

CF centres
MDT
Physiotherapy
Nutrition/enzymes
Antibiotics
Aggressive approaches
Annual flu/pneumococcal vaccine

56
Q

What can be done to improve the quality of life of a patient with CF?

A

Oxygen and NIV
Exercise
Support (physical, mental, social, financial, alternative therapies)
Advanced care plans
DNAR discussions

Respiration (27 decks)

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