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Cystic fibrosis Flashcards

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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?

Study These Flashcards
A

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

24
Q

What is progressive airflow obstruction?

Study These Flashcards
A

Increasing exertional dyspnoea
Survival is related to FEV1
Multiple drugs

25
What is the difference between type 1 and type 2 respiratory failure?
Type 1 = Decreased PaO2 Type 2 = Decreased PaO2 and increased PaCO2
26
How is respiratory failure treated?
Oxygen Nocturnal NIV Lung transplant in some
27
What does a CXR look like in a CF patient?
Lungs aren't clear Fluffy/marshmallowy patches
28
What does a CT scan look like in a CF patient?
Tramlines = thickened dilated airways that cant clear mucous Signet ring = cross section of a tramline Mucous plugging Consolidation (infection)
29
What is a peripheral sign of CF and why does it occur?
Finger clubbing - Result of low O2 in blood - Can be familial
30
What are the different types of diabetes and which is most common in CF patients?
Type 1 = No insulin is made Type 2 = Not enough insulin from pancreas or insulin is not working properly CF = Type 2
31
What are some issues specific to CF diabetes?
Compliance with diet - Need high calorie diet unlike non-CF diabetics Insulin is of benefit
32
How is osteoporosis related to CF?
Bone mineral density falls in patients with CF - Slower gain and a faster loss
33
What are the effects of osteoporosis in CF?
Increased risk of fractures May exclude lung transplant - After transplant youre given a high dose of steroids which further thin your bones
34
What are some treatments for osteoporosis?
Bone protection drugs Weight baring exercise
35
How does pneumothorax relate to CF?
Affects 3-4% of CF patients during their lifetime - Greater occurrence in older more severe obstructive lung disease
36
Why does haemoptysis occur in CF?
Due to bronchial wall destruction
37
What would major haemoptysis look like?
Large amount of blood over a short period of time May be preceded by gurgling in chest
38
How is a major haemoptysis treated?
Admit to hospital, resuscitate May need bronchial angiogram and embolization (look for source of bleeding and block it off)
39
What are some risk factors for haemoptysis?
Severity of CF High number of exacerbations Fungal lung infections Liver disease, vit K deficiency or on anticoagulant (all can thin blood)
40
Name some people involved in the MDT care of a CF patient?
Physician Nurse specialist Physiotherapist Dietician Psychologist Pharmacist Lung function physiologist Microbiologist Gastroenterologist Diabetes Primary care
41
How do you treat pancreatic insufficiency in CF?
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
What different aspects of CF are treated?
Mucous obstruction inflammation Infection Increased inflammation Fibrosis/scarring/bronchiectasis
43
How is mucous obstruction inflammation treated?
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
How do you treat infections in CF?
Antibiotics
45
How do you treat increased inflammation in CF?
Azithromycin - Can be used at low dose long term - Reduces the number of infective exacerbations of CF
46
How do you treat fibrosis/scarring/bronchiectasis in CF?
Supportive treatment and management of symptoms - Oxygen - Home ventilation NIV - Psychological support - benefits/social issues
47
What is the social, educational and economic impact on children and family of CF?
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
What is the social, educational and economic impact on adults with CF?
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
What is the drug burden of a CF patient like?
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
What are the indications a patient needs a transplant?
Rapidly deteriorating lung function FEV1 <30% predicted Life threatening exacerbations Estimated survival <2years
51
What is the role of a lung transplant in CF patients?
A measure to prolong survival and improve quality of life (not a miracle cure)
52
What are some factors that would prevent a patient receiving a lung transplant?
Other organ failure Malignancy within past 5 years Significant peripheral vascular disease Drug, nicotine, alcohol dependency Active systemic infection Microbiological issue
53
What factors would you have to use clinical judgement on when deciding whether to give a lung transplant or not?
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
How can type of bacteria affect median survival?
If colonised = median survival falls If not colonised = median survival is around 40
55
Why has median survival for CF improved?
CF centres MDT Physiotherapy Nutrition/enzymes Antibiotics Aggressive approaches Annual flu/pneumococcal vaccine
56
What can be done to improve the quality of life of a patient with CF?
Oxygen and NIV Exercise Support (physical, mental, social, financial, alternative therapies) Advanced care plans DNAR discussions

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