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3: Paeds Y3/4 - Paediatrics [15] > [4] Cystic Fibrosis > Flashcards

[4] Cystic Fibrosis Flashcards

1
Q

What is cystic fibrosis (CF)?

A

A genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidney, and other organs

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2
Q

What is the inheritance of CF?

A

Autosomal recessive

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3
Q

How does CF compare to other life-limiting autosomal recessive conditions in caucasians?

A

It is the most common

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4
Q

What is the incidence of CF?

A

1 in 2500 live births

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5
Q

What is the carrier rate of CF?

A

1 in 25

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6
Q

What is the fundamental problem in CF?

A

A defective protein called the CF transmembrane conductance regulator (CFTR)

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7
Q

What is the CFTR?

A

c-AMP dependent chloride channel found in the membrane of cells

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8
Q

What effect does the defective CFTR have?

A

Abnormal transport of ions across epithelial cells

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9
Q

How does CF affect the respiratory system?

A

Reduced fluid in airway surfactant, leading to reduced ciliary function and retention of mucus secretions

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10
Q

What can retention of mucus in the lungs result in?

A

Chronic endobronchial infections with specific organisms e.g. Pseudomonas aeruginosa

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11
Q

How can CF affect the immune system?

A

Leads to dysregulation of inflammation and defence against infection

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12
Q

How does CF affect the intestine of infants?

A

Thick, viscous meconium is produced leading to meconium ileus

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13
Q

What percentage of babies born with CF are affected by meconium ileus?

A

10-20%

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14
Q

How can CF affect the pancreas?

A

Block it due to thickened secretions

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15
Q

What does pancreatic obstruction lead to?

A

Pancreatic enzyme deficiency and malabsorption

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16
Q

What percentage of children with CF are affected by pancreatic exocrine insufficiency?

A

90%

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17
Q

How does CF affect the sweat glands?

A

Creates sweat with excessive levels of sodium and chloride ions

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18
Q

On what chromosome is the CFTR gene located?

A

7

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19
Q

How many gene mutations have been show to cause distinct defects in the CFTR?

A

Over 900

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20
Q

What is the most frequent gene mutation in CF in the UK?

A

F508

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21
Q

How does the genotype affect the phenotype?

A

Some are associated with milder disease and pancreatic sufficiency

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22
Q

How has genotype began to affect treatment options?

A

Has allowed for CFTR potentiators such as Ivacaftor and correctors such as Lumicaftor

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23
Q

What are CFTR potentiators useful for?

A

Restoring the function of CFTR in class III and IV mutations

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24
Q

What are CFTR correctors useful for?

A

Potentially restoring CFTR numbers in class II defects

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25
Q

What is the main risk factor for CF?

A

Caucasian ethnicity

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26
Q

What are the symptoms of CF?

A
  • Recurrent chest infections
  • Faltering growth
  • Persistent wet cough producing purulent sputum
  • Steatorrhoea
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27
Q

What causes the steatorrhoea and faltering growth?

A

Malabsorption due to pancreatic exocrine insufficiency

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28
Q

What are the signs of CF on examination?

A
  • Hyperinflation of the chest
  • Coarse inspiratory crepitations
  • Expiratory wheeze
  • Finger clubbing in advanced disease
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29
Q

How is CF often detected?

A

On newborn screening

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30
Q

Who is screened for CF?

A

All newborns

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31
Q

What does screening for CF help to reduce?

A

Delayed presentation with faltering growth and chronic chest infections

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32
Q

What is the initial screening test used to diagnose CF?

A

Heel prick test

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33
Q

What is looked for in the heel prick test for CF?

A

Immunoreactive Trypsinogen (IRT)

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34
Q

What happens to patients who are found to be IRT positive?

A

They are screened for common gene mutations

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35
Q

What happens to patients with at least 2 gene mutations associated with CF?

A

They undergo a sweat test to confirm the diagnosis

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36
Q

How is the sweat test performed?

A

Apply low-voltage current to pilocarpine applied to the skin, with sweat collected into capillary tube or absorbed onto a piece of filter paper

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37
Q

What constitutes a positive sweat test?

A

Cl in sweat is between 60-125mmol/L

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38
Q

How can pancreatic insufficiency be diagnosed?

A

Low faecal elastase

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39
Q

What are some differentials for CF?

A
  • Asthma
  • Other causes of failure to thrive
  • Bronchiectasis
  • Coeliac disease
  • Primary ciliary dyskinesia
40
Q

What are the 3 key points in the day-to-day management of CF?

A
  • Infection control
  • Physiotherapy
  • Nutritional management
41
Q

What are the main aims of these combined treatment strategies?

A

To ensure infants and children with CF do not have respiratory symptoms or symptoms of malnutrition

42
Q

What do many CF specialists recommend in order to reduce the risk of respiratory tract infection patients with CF?

A

Prophylactic antibiotic treatment

43
Q

What is usually recommended for prophylactic antibiotic treatment in patients with CF?

A

Flucloxacillin

44
Q

What is recommended if there is an increase in respiratory symptoms or decline in lung function?

A

Rescue antibiotics

45
Q

What is an indicator in CF for IV antibiotics?

A

Persisting signs or symptoms despite oral antibiotics

46
Q

Why is vigorous IV antibiotic therapy often required?

A

In order to prevent lung damage

47
Q

For how long are IV antibiotics given in more severe CF related infections?

A

14 days

48
Q

How are IV antibiotics usually administered in CF?

A

Via a PIC line

49
Q

What type of infection is more commonly associated with rapid decline in lung function?

A

Pseudomonas infection

50
Q

What is used to treat pseudomonas infection?

A

Specific anti- pseudomonal antibiotics

51
Q

What do more severe cases of CF often require?

A

Regular IV antibiotic therapy

52
Q

How can regular IV antibiotic therapy best be administered?

A

Via a central venous catheter with a SC access port

53
Q

What is the problem with using a central venous catheter with a SC access port?

A

They require monthly flushing and complications may develop

54
Q

When and how often should children with CF begin engaging with physiotherapy techniques?

A

From diagnosis at least twice a day

55
Q

What is the aim of physiotherapy techniques in CF?

A

To clear the airways of secretions

56
Q

What physiotherapy techniques are advised for young children?

A

Chest percussion and postural drainage performed by parents

57
Q

What physiotherapy techniques are advised for older children?

A

Controlled deep breathing exercises

58
Q

What else may be useful in the physiotherapy management of CF?

A

Physiotherapy devices

59
Q

What else is encouraged in CF?

A

Exercise

60
Q

What should be assessed regularly in CF patients?

A

Dietary status

61
Q

How is pancreatic insufficiency treated?

A

Oral enteric-coated pancreatic replacement therapy

62
Q

When should pancreatic replacement therapy be taken?

A

With every meal and snacks

63
Q

How is the dose of pancreatic replacement therapy determined?

A

Based on clinical response

64
Q

What is essential in a CF diet?

A

High calories

65
Q

How high must the calorie count be in a CF diet?

A

Around 150% of normal

66
Q

How may a high calorie diet be achieved?

A

Over night feeding via gastrostomy

67
Q

What else may CF patients require to supplement their diet?

A

Fat soluble vitamin tablets

68
Q

What is the only therapeutic treatment that can be considered in end stage CF lung disease?

A

Bilateral sequential lung transplant

69
Q

What is the current 10 year survival rate post Bilateral sequential lung transplant?

A

50%

70
Q

What must be considered before deciding to perform a lung transplant?

A
  • Co-morbidities
  • Microbiology
  • Psychological preparation
  • Optimal timing
  • Post-transplant care
71
Q

How has the average life-expectancy of a CF patient improved?

A

From a few years to mid 30’s

72
Q

What is the current predicted life expectancy of a baby born with CF?

A

Into the 40’s

73
Q

What do 95% of CF patients ultimately die of?

A

Respiratory failure

74
Q

What are the other common complications of CF?

A
  • Meconium ileus
  • Distal intestinal obstruction syndrome (DIOS)
  • Infection
  • Liver disease
  • Respiratory complications
  • Infertility
  • Psychological impact
75
Q

How many infants with CF are affected by meconium ileus?

A

10-20%

76
Q

What does meconium ileus cause?

A

Intestinal obstruction

77
Q

What are the typical symptoms of meconium ileus?

A
  • Vomiting
  • Abdominal distension
  • Failure to pass meconium
78
Q

What is usually needed to treat meconium ileus?

A

Surgical treatment

79
Q

What can sometimes be useful in relieving the obsstuction caused by meonium ileus?

A

Gastrografin enema

80
Q

What is a DIOS?

A

It is the later equivalent of a meconium ileus by where the mucofaeculent material obstructs the bowel

81
Q

How is DIOS treated?

A

Combination of oral laxatives

82
Q

What can chronic infection in CF lead to?

A
  • Damage to bronchial wall
  • Bronchiectasis
  • Abscess formation
83
Q

What organisms often cause infection in CF?

A
  • Staph aureus
  • Haemophilus influenzae
  • Pseudomonas aeruginosa
  • Burkholderia
84
Q

Which organisms tend to cause rapid decline of lung function in CF?

A

Pseudomonas and Burkholderia

85
Q

What are patients often advised to do as a result of high risk infection with specific organisms?

A

Avoid socialising with other CF patients

86
Q

How many adolescent CF patients will have evidence of liver disease?

A

1/3

87
Q

What evidence can be seen suggesting liver disease?

A
  • Hepatomegaly
  • Abnormal LFTs
  • Abnormal USS
88
Q

What may be beneficial to improve bile flow in patients with liver disease in CF?

A

Ursodeoxycholic acid

89
Q

What does CF associated liver disease rarely progress to?

A
  • Cirrhosis
  • Portal hypertension
  • Liver failure
90
Q

What treatment is generally very successful in CF patients with severe liver disease?

A

Transplant

91
Q

What respiratory complications becoming increasingly more likely as CF progresses?

A
  • Chest infections
  • Pneumothorax
  • Life-threatening haemoptysis
92
Q

Which gender are affected by infertility in CF?

A

Male

93
Q

Why do males almost always experience infertility in CF?

A

They do not have a vas deferens

94
Q

How may males with CF father children?

A

Through intracytoplasmic sperm injection

95
Q

Are females affected by infertility in CF?

A

No, they tolerate pregnancy well unless they have severe lung disease

96
Q

Why do patients with CF require psychological support?

A

They have to cope with a chronic and ultimately life-limiting disease

97
Q

Which age group require particularly special psychological consideration?

A

Adolescents

3: Paeds Y3/4 - Paediatrics [15] (115 decks)

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