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Respiratory (LECTURE NOTES) > Cystic Fibrosis > Flashcards

Cystic Fibrosis Flashcards

1
Q

How many live births does cystic fibrosis affect

A

1 in 2500

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2
Q

How is cystic fibrosis inherited

A

in an autosomal recessive manner

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3
Q

How much of the population are carriers for the disease

A

1 in 25

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4
Q

Where is the mutational defect that causes cystic fibrosis

A

On the long arm of chromosome 7 that codes for (CFTR)

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5
Q

What does CFTR stand for

A

Cystic Fibrosis Transmembrane conductance regulator

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6
Q

What is the most common mutation

A

Deletion of three base pairs of the gene results in the loss of phenylalanine at position 508

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7
Q

What is the primary physiological defect in cystic fibrosis

A

Reduced chloride conductance at epthelial embranes

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8
Q

What is a characteristic of the disease

A

Chloride and sodium in the sweat (salty sweat)

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9
Q

How many classes of mutations of the CFTR gene are there

A

5

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10
Q

Mutations in classes 1-3 result in what

A

No CFTR function at the cell membrane

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11
Q

What is more severe? classes 1-3 or classes 4-5

A

Classes 1-3

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12
Q

What does reduced chloride secretion and increased sodium reabsorption result in in the bronchial mucosa

A

Secretions of abnormal viscosity with reduced water content of the airway surface liquid and reduced depth of the periciliary fluid

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13
Q

What inactivates defensins

A

The high salt content of the airway surface

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14
Q

What inactivates defensins

A

The high salt content of the airway surface

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15
Q

What are defensins

A

Naturally occurring antimicrobial peptides on the epithelial surface

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16
Q

Why does bacteria adhere to the mucosa and proliferate in patients with cystic fibrosis

A

These patients have abnormal mucus glycoproteins that act as binding sites for the bacteria

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17
Q

In what organ is there abdnormal ion transport resulting in plugging and obstruction of ductules with pregressive destruction of the gland

A

Pancreas

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18
Q

Why does malabsorption occur in patients with cystic fibrosis

A

Pancreatic enzymes fail to reach the small intestine which results in malabsorption off fats with steathorrhoea and failure to gain weight

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19
Q

What might cause diabetes in a patient with cystic fibrosis

A

Progressive destruciton of the endocrine pancreas

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20
Q

Why do patients with cystic fibrosis have an increased incidence of fallstones and biliary cirrhosis

A

Abnormalities of bile secretion and absorption

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21
Q

10% of children with cystic fibrosis present with what at birth

A

Meconium ileus

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22
Q

What is meconium ileus

A

A form of intestinal obstruction caused by inspissated viscid faecal material resulting from lack of pancreatic enzymes and from reduced intestinal water secretion

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23
Q

What are other symptoms of cystic fibrosis

A

obvious malabsorption by the age of 6 month (50%0
failure to thrive
abdominal distension
copious offensive stools from steatorrhoea
Rectal prolapse occasionally occurs

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24
Q

What is the most prominent feature of cystic fibrosis

A

Recurrent respiratory infections with cough, sputum production and wheeze

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25
Q

What is the most prominent feature of cystic fibrosis

A

Recurrent respiratory infections with cough, sputum production and wheeze

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26
Q

What are the typical organisms isolated in sputum cultures

A

Staph Aureus
Haemophilus influenzae
Streptococcus pneumoniae

27
Q

By the teenage years, many patients will have become infected with what?

A

Mucoid strains of pseudomonas aerginosa

28
Q

What organism causes onion rot

A

Burkholderia cepacia complex

29
Q

How can burkholderia cepacia complex spread

A

From person to person in close social contact (those with CF)

30
Q

What type of Burkholderia cepacia is associated with the worst prognosis

A

Type 3

31
Q

Why is social contact between patients with CF discouraged

A

Because of the potential for transmission of infection between patients

32
Q

What happens as the cycle of infection and inflammation progress

A

Lung damage worsens with deteriorating airways obstruction, destruction of lung parenchyma, impairment of gas exchange and the development of hypoxaemia, hypercapnia and cor pulmonale

33
Q

What provokes hypertrophy of the bronchial arteries and what does this result in

A

Persistent pulmonary inflammation

Haemoptysis

34
Q

What are some of the GI complications that patients with CF can develop

A 
Fatty liver 
gallstones 
focal biliary fibrosis 
multinodular cirrhosis and hepatosplenomegaly 
portal hypertension
oesophageal varices 
liver failure
35
Q

What is the equivalent of meconium ileus

A

Distal intestinal obstruction syndrome

36
Q

Where is there often a palpable mass (GI) in patients with CF

A

Right ileac fossa

37
Q

What is the treatment to prevent recurrence of GI symptoms

A

Pancreatic enzyme supplements, avoidance of dehydration and possible use of laxatives

38
Q

What specifically causes almost all male CF patients to be infertile

A

The congenital bilateral absence of the vas deferens

39
Q

What are CF patients at risk of developing in hot weather and why

A

Heat prostration

As a result of excess loss of salt in sweat

40
Q

How is the diagnosis of CF based upon

A

The demonstration of elevated sweat chloride concentrations on a sweat test in association with characteristic clinical features such as recurrent respiratory infections or pancreatic insufficiency

41
Q

What are the two known cystic fibrosis mutations on DNA analysis

A

Delta F508 and G542X

42
Q

What is sweating induced by

A

Pilocarpine iontophoresis

43
Q

How is the sweat test carried out

A

Pilocarpine is placed on the skin of the forearm and a small electrical current is passed across it to enhance its penetration of the skin and stimulation of the sweat ducts.

44
Q

What have the sweat chloride levels got to be above for a high suspicion of CF

A

over 60mmol/L

45
Q

What is used to detect carrier status

A

Genotyping

46
Q

What do infants with CF have

A

Elevated serum immunoreactive trypsin activity

47
Q

How is newborn screening for CF carried out

A

Measured on a single dried blood spot obtained on a Guthrie card as part of the newborn screening programme for diseases such as PKU and hypothyroidism

48
Q

What are the 4 basic elements to treatment for CF

A

Chest physio - to clear the bronchial secretions
Antibiotics to treat the pulmonary infection
Pancreatic enzyme supplements to correct the nutritional deficits
Dietary support

49
Q

At what stage of the disease is chest physiotherapy important

A

All stages

50
Q

What 3 techniques are used during chest physio

A

Postural drainage
Chest percussion
Positive expiratory pressure devices

51
Q

What is given long term from early childhood?

A

Flucloxacillin

52
Q

What is the usual antibiotic used to treat exacerbations

A

Amoxicillin

53
Q

Some patients have a reversible component to their airways obstruction and benefit from what

A

Bronchodilator drugs (salbutamol) and inhaled steroids (beclametasone)

54
Q

How is mucolytic medication administered

A

By nebulisation and improves the lung function and reduces the number of exacerbations in some patients

55
Q

How is mannitol administered

A

A dry powder inhalor

56
Q

How does mannitol work

A

It is an osmotic agent that also increases the warter content of the airway surface liquid with improved mucociliary clearance

57
Q

What might be useful in reducing lung injury by inhibiting the migration and activation of neutrophils

A

High dose ibuprofen

58
Q

When are pancreatic enzyme supplements taken

A

With each meal and with snacks containing fat

59
Q

Patients with CF required how much of the recommended daily calorie intake for individuals without CF

A

120-150%

60
Q

An FEV1 of less than 30% of the predicted value is associated with what kind of mortality rate

A

50% 2 year mortality rate

61
Q

What is the main option to be considered in patients with advanced disease

A

Lung transplantation

62
Q

What is the median survival for CF patients nowadays

A

38 years

63
Q

What social factors are also affected through the illness

A 
Reduced life expectancy
Insurance 
choice of career
relationships 
marriage 
pregnancy 
fertility

Respiratory (LECTURE NOTES) (19 decks)

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