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Year One - Respiratory System > Cystic Fibrosis > Flashcards

Cystic Fibrosis Flashcards

1
Q

What is cystic fibrosis?

A

It is a genetic condition that affects the mucus glands of multiple organs within the body

It specifically results in an increased viscosity of secretions

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2
Q

What is the inheritance of cystic fibrosis (CF)?

A

Autosomal recessive

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3
Q

What is the most common genetic disorder in caucasians?

A

Cystic fibrosis

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4
Q

Which genetic mutation is associated with cystic fibrosis? Which chromosome is this gene contained on?

A

A mutation of the transmembrane conductance regulator (CFTR) gene

Chromosome 7

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5
Q

What is the function of the CFTR gene?

A

It codes for a cAMP-regulated chloride channel, which enables efflux of chloride ions and inhibits influx of sodium ions

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6
Q

What is the most common mutation variant of the CFTR gene?

A

Delta-F508

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7
Q

Due to the genetic mutation of the CFTR gene, describe the pathophysiology of cystic fibrosis?

A

There is an increased amount of chloride ions that leave the cell, and an increased amount of sodium ions that are reabsorbed along with water

Subsequently, secretions become dehydrated and thickened

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8
Q

What are the twelve clinical features of cystic fibrosis?

A

Respiratory Tract Infections

Bronchiectasis

Meconium Ileus

Steatorrhoea

Rectal Prolapse

Pancreatic Insufficiency

Diabetes Mellitus

Failure To Thrive

Delayed Puberty

Infertility

Nasal Polyps

Finger Clubbing

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9
Q

How does cystic fibrosis result in recurrent respiratory tract infections and bronchiectasis?

A

This is due to thickened airway secretions resulting in reduced mucociliary clearance from the bronchi and increased salt concentration leadings to impaired bacterial defences

This leads to bacterial colonisation and lung inflammation

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10
Q

What is the first clinical feature of cystic fibrosis?

A

Meconium ileus

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11
Q

What is meconium?

A

It is the first stool a baby passes, which is usually black

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12
Q

How quickly after birth should meconium be passed?

A

Within 24 hours

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13
Q

What is meconium ileum?

A

It is defined as intestinal obstruction in the newborn, due to decreased digestive secretions resulting in the meconium being sticky

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14
Q

What are the three clinical features of meconium ileum?

A

The absence of meconium passing within 24 hours

Abdominal distension

Vomiting

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15
Q

What is steatorrhoea? How does cystic fibrosis result in steatorrhoea?

A

It is defined as the production of loose, greasy stools

It is due to thickened secretions blocking the pancreatic ducts resulting in reduced production of the fat digesting enzyme - lipase

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16
Q

What is pancreatic insufficiency?

A

It is defined as a condition in which the pancreas doesn’t produce enough of enzymes that are used to digest food within the small intestine

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17
Q

What are the two classifications of pancreatic insufficiency?

A

Endocrine

Exocrine

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18
Q

What is the clinical manifestation of endocrine pancreatic insufficiency?

A

Diabetes mellitus

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19
Q

What is the clinical manifestation of exocrine pancreatic insufficiency?

A

Malabsorption of nutrients and fat soluble vitamins

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20
Q

In males, how does cystic fibrosis result in infertility?

A

It can result in congenital bilateral absence of the vas deferens

This results in a blockage which means that the sperm in the testes are unable to mix with the ejaculate

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21
Q

In females, how does cystic fibrosis result in subfertility?

A

It is due to the thickened mucus secretions in the cervix and irregular menstruation cycles

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22
Q

How does cystic fibrosis result in nasal polyps?

A

This is due to thickened secretions leading to recurrent nasal infection

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23
Q

What are the seven investigations used to diagnose cystic fibrosis?

A

Newborn Blood Spot Test

Sweat Test

Genetic Testing

Sputum Culture

Faecal Elastase

Chest X-Ray (CXR)

CT Scan

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24
Q

What is another term for the newborn blood spot test?

A

Guthrie test

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25
Q

What is the newborn blood spot test?

A

It involves pricking the newborns heels to produce a blood sample and enable identification of nine serious health conditions

26
Q

When is the newborn blood spot test conducted?

A

Between 5 and 9 days old

27
Q

What newborn blood spot test result indicates cystic fibrosis?

A

Increased Immunoreactive Trypsinogen (IRT) Levels

28
Q

What is conducted following a positive newborn blood spot test for cystic fibrosis?

A

The baby is referred for clinical assessment and further cystic fibrosis testing – sweat test

29
Q

What is the gold standard investigation used to diagnose cystic fibrosis?

A

Sweat test

30
Q

What is the sweat test?

A

It involves measuring the chloride concentration in sweat.

31
Q

How do we conduct the sweat test?

A

This is conducted by the application of pilocarpine onto a patch of skin and the placement of electrodes on either side, which produce small electrical currents

This results in the production of sweat, which is then absorbed with gauze and tested for its chloride concentration

32
Q

What sweat test result indicates cystic fibrosis?

A

Chloride concentration > 60mmol/l

33
Q

In what two ways is genetic testing conducted antenatally?

A

Amniocentesis

Chorionic villus sampling

34
Q

How do we conduct genetic postnatally?

A

Blood test

35
Q

How is a sputum culture used to diagnose cystic fibrosis?

A

They are used to identify the microbial colonisers within the respiratory tract to enable appropriate management guidance

36
Q

What are the seven microbial colonisers associated with cystic fibrosis?

A

Staphylococcus Aureus

Pseudomonas Aeruginosa

Escherichia Coli

Haemophilus Influenza

Klebsiella Pneumonia

Burkhodheria Cepacia

Aspergillus

37
Q

What are the two most common microbial colonisers associated with cystic fibrosis?

A

Staphylococcus Aureus

Pseudomonas Aeruginosa

38
Q

What is important to note about pseudomonas aeruginosa infections?

A

It is associated with an increased mortality and morbidity

It is a bacteria that can become resistant to multiple antibiotics, and is therefore difficult to provide treatment for

39
Q

What is a faecal elastase test?

A

It involves measuring the amount of the human pancreas specific enzyme, elastase, is contained within faeces

40
Q

How is a faecal elastase test used to diagnose cystic fibrosis?

A

This enables evaluation about the pancreas’s function and therefore identification of pancreatic insufficiency - which is indicated by a decreased level of faecal elastase

41
Q

What are the two signs of cystic fibrosis on CXR?

A

Bronchiectasis Features

Hyperinflation

42
Q

What are the three signs of cystic fibrosis on CT scan?

A

Bronchial Wall Thickening

Bronchiectasis Features

Mucus Plugging

43
Q

In what six ways can we manage the respiratory manifestations of cystic fibrosis?

A

Annual Vaccinations

Chest Physiotherapy

Antibiotics

Bronchodilators

Mucolytics

Lung Transplant

44
Q

What three annual vaccinations are administered to cystic fibrosis patients?

A

Pneumococcal

Influenza

Varicella

45
Q

How is chest physiotherapy used to treat cystic fibrosis?

A

It improves respiratory function and enables clearance of mucus

This reduces the recurrence of respiratory tract infections

46
Q

What prophylactic antibiotic is administered to cystic fibrosis patients? What infection does this reduce the risk of?

A

Oral flucloxacillin

Staph. aureus

47
Q

What is the most common antibiotic administered to treat acute respiratory exacerbations of cystic fibrosis?

A

Azithromycin

48
Q

What two antibiotics are used to treat pseudomonas aeruginosa infections?

A

Nebulised tobramycin

Oral ciprofloxacin

49
Q

How are bronchodilators used to treat cystic fibrosis?

A

They are used to treat airway obstruction related to bronchoconstriction

50
Q

Name two mucolytics

A

Hypertonic saline

Dornase alfa

51
Q

What is the function of mucolytics?

A

They are enzymes that break down DNA material in respiratory secretions to make them less viscous and easier to clear

52
Q

When is lung transplant considered in cystic fibrosis?

A

In cases of end stage respiratory failure

53
Q

In what three ways do we treat the gastrointestinal manifestations?

A

Creon Tablets

Dietician Input

Diabetes Mellitus Management

54
Q

When do we administer creon tablets to cystic fibrosis patients?

A

In those that develop pancreatic insufficiency

55
Q

What is the function of creon tablets?

A

They contain the pancreatic enzyme lipase, which is used to digest fats within the gastrointestinal tract

56
Q

Why is dietician input important in cystic fibrosis?

A

This is due to recurrent infection and malabsorption resulting in weight loss

57
Q

In what two ways do dieticians promote weight gain in cystic fibrosis?

A

High calorie, high fat diet

Pancratic enzyme supplementation

58
Q

How often should cystic fibrosis patients take pancreatic enzyme supplementation?

A

They should take this with every meal

59
Q

What two nutritional management options are considered when first line options fail?

A

Enteral feeding via PEG

NG tube

60
Q

How is diabetes managed in cystic fibrosis patients?

A

Insulin

61
Q

How do we manage male infertility in cystic fibrosis patients?

A

Testicular sperm extraction

62
Q

What are the six complications of cystic fibrosis?

A

Pneumothorax

Haemoptysis

Cor Pulmonale

Diabetes Mellitus

Chronic Liver Disease

Osteoporosis

Year One - Respiratory System (14 decks)

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