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Cystic fibrosis Flashcards

1
Q

What is the inheritance pattern of CF ?

A

Autosomal recessive

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2
Q

What is the disease prevalence ?

A

1/2500

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3
Q

What is the prevalence for carriers ?

A

1/25

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4
Q

Where is the CFTR gene ?

A

Long arm of chromosome 7

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5
Q

What is the commonest mutation in CF ?

A

DF508

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6
Q

What is the cause of death in 90% of CF ?

A

Respiratory failure

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7
Q

If both parents are carriers for the mutation , what is the chnace that the child will be affected ?

A

1/4

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8
Q

If both parents are carriers for the mutation , what is the chnace that the child will be a carrier ?

A

2/4

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9
Q

If both parents are carriers for the mutation , what is the chnace that the child will be unaffected ?

A

1/4

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10
Q

How does CF occur ?

A

Due to mutation in the transmembrane conductance regulator protein (CFTR)

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11
Q

What does abnormal transport of chloride and sodium cause ?

A

Reduced air way surface liquid
Thich sticky mucous
Shearing
Impaired bacterial killing via neutrophils

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12
Q

How many mutations classes of CFTR are there ?

A

6

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13
Q

What does classes I-III indicate ?

A

Severe disease

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14
Q

What does classes IV-VI indicate ?

A

Milder disease

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15
Q

How id CF diagnosed ?

A

Antenatal screening
Neonatal screening
Sweat test

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16
Q

What are the ways of antenatal screening ?

A

Pre-implantation genetic diagnosis
Chorionic villus sampling
Amniocentesis

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17
Q

What are the ways of neonatal screening ?

A

Gurthie test

+ screening- referred for clinical assessment and sweat test

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18
Q

What is the sweat test ?

A

Measures the concentration of chloride excreted in sweat

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19
Q

What happens to chloride in CF ?

A

Cl is elevated

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20
Q

When is sweat chloride abnormal ?

A

> 60mmol/L

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21
Q

What are the possible diagnosis outcomes ?

A

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

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22
Q

Where about in the body can CF affect ?

A 
Lungs
GI and liver 
Psychosocial 
Nasal
Nutrition 
Reproductive
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23
Q

What are 2 main diseases caused by CF ?

A

Infection and bronchiectasis

Pancreatic insufficiency

24
Q

What other organ can CFTR affect ?

25
What do lack of enzymes from the pancreas cause ?
Malabsorption Abnormal stools Failure to thrive
26
What are the effects of the different classes of CF disease on the pancreas ?
Class I-III = pancreatic insufficiency | Class IV-VI = some pancreatic function
27
What % of CFTR function do we need to have sufficient pancreatic function and be asymptomatic ?
5%
28
What is recurrent chest infections linked to ?
Pneumonia Bronchiectasis Scarring Abscesses
29
What does CFTR abnormality cause ?
Abnormal electrolyte transport across cell memebrane Dehydration of airway surface layer (water later which allows mucous to slide easily up airway to be coughed up) Decreased mucocilary clearance Mucous sticks to mucosal surface and causes shearing and inflammation Increased access to bacteria Decreased bacteria killing
30
How do pateints get repeated respiratory infections ?
Due to a vicious cycle of events
31
What is the cycle of events that happen ?
``` Decreased mucocilary clearance Increased bacterial adherence Decreased endocytosis of bacteria I V Bacterial colonisation I V Inflammation Mucus plugging Airway ulceration Airway damage I V *Bronchiectasis I V (back to the start) ```
32
What is progressive bronchiectasis ?
Chronic sputum production
33
What is progressive airflow obstruction linked to ?
Survival related to FEV1 Increasing breathlessness Multiple drugs
34
What is type 1 respiratory failure ?
Decreased PaO2
35
What is type 2 respiratory failure ?
Decreased PaO2 | Increased PaCO2
36
In CF what does a CT show ?
Tramlines Signet rings Mucous plugging Consolidation (infection)
37
How is CF managed ?
By a MDT to improve long-term outcome
38
What is the treatment of pancreatic insufficiency in CF ?
Boosting nutrition Replace enzymes (CREON) Diet- high energy + high calorie supplement drinks Nutritional supplements- fat-soluble vitamin and mineral supplements
39
What is the treatment of mucus obstruction inflammation in CF ?
Airway clearance via physiotherapy Mucolytics Bronchodilators
40
What is the treatment of chronic infection in CF ?
Antibiotics- oral, IV, nebulised
41
What is the treatment of increased inflammation in CF ?
Azithromycin
42
What is the treatment of fibrosis/ scarring/ bronchiectasis in CF ?
Supportive management and management of symptoms
43
What are a few aspects to be aware of in CF ?
Diabetes Osteoporosis Pneumothorax Haemoptysis
44
How does diabetes differ in pateints with CF ?
The type of diabetes and its management in CF differs
45
What happens to pateints with osteoporosis and CF ?
Bone density mineral falls in pateints with CF
46
What % of people with CF suffer from pneumothorax ?
3-4%
47
What causes haemoptysis in CF ?
Bronchial wall destruction
48
What are the risk factors for haemoptysis in CF ?
Severity of CF High number of exacerbations Fungal lung infection Liver disease
49
What are the social, educational and economic impact on children with CF ?
``` Barriers to making friends Increased depression/ anxiety Low adherence to time-consuming treatments Siblings Increased costs to the family ```
50
What are the social, educational and economic impact on adults with CF ?
``` Transition from new MDT can be challenging Restrictions on career Transport costs New drugs Pressures Possibility of lung transplant ```
51
What are the indications for double lung transplant ?
``` Rapidly deteriorating lung function FEV1 <30% predicted Life threatening exacerbations Estimated survival <2years Other- recurrent pneumonia, recurrent severe haemoptysis ```
52
What % of pateints die on the waiting list ?
30-40%
53
What are the absolute contraindications to lung transplant ?
``` Other organ failure Malignancy within 5 year Significant peripheral vascular disease Drug, nicotine, alcohol dependency Active systemic infection Microbiological issues ```
54
What is the median age of survival in CF ?
40 years
55
What is end of life care in CF ?
``` Oxygen and NIV Exercise Support- physical, mental, social, financial, alternative therapies Advanced care plans DNAR discussions ```

Respiratory block (38 decks)

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