Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

MD3001 Respiratory > Cystic Fibrosis > Flashcards

Cystic Fibrosis Flashcards

1
Q

What is cystic fibrosis?

A

genetic disease from abnormalities in cystic fibrosis transmembrane conductance regulator (CFTR gene)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What are the common clinical manifestations of cystic fibrosis?

A
  • pancreatic dysfunction: calorie malabsorption

- lung disease: mucus retention, infection and inflammation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Describe the pathophysiology of cystic fibrosis

A
  • mutations in CFTR causes abnormal salt transport by epithelial cells causing thick, sticky secretions
  • in pancreas:
  • blockage of exocrine ducts
  • early activation of pancreatic enzymes
  • autodestruction of exocrine pancreas
  • in intestine: bulky stools that can lead to intestinal blockage
  • in respiratory: mucus retention, chronic infection and inflammation that results in destruction of lung tissue
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

How are newborns screened for cystic fibrosis?

A
  • dried heel-stick blood spot

- looking for serum immunoreactive trypsinogen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What are the possible presentations of cystic fibrosis?

A
  • newborns: delayed passage of meconium
  • infancy/early childhood: faltering growth
  • infants/young children: prolonged/severe bronchiolitis/recurrent respiratory complaints
  • adults: chronic/recurrent bronchitis/sinusitis/pancreatitis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What are findings in physical examination which can be signs of CF?

A
  • appearance of malnutrition
  • nasal polyps
  • increased antero-posterior diameter of chest
  • crackles at auscultation
  • clubbing
  • stool mass upon palpation of stomach
  • enlarged liver/spleen
  • males: bilateral absence of vas deferens
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Describe the sweat test for CF

A
  • small amount of pilocarpine put on skin of forearm to stimulate sweating
  • area of skin stimulated by small current
  • sweat collected in microcapillary tube and chloride content measured
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What are the benefits of the sweat test?

A
  • painless
  • relatively inexpensive
  • provides results in hours
  • accurate if performed at qualified centre
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Describe the outcomes of a sweat test

A
  • negative test <30mmol/l of sweat chloride
  • positive test >60mmol/l of sweat chloride
  • if falls in intermediate range: needs further investigations
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is the other modes of investigation of CF other than the sweat test?

A
  • genetic testing
  • screen for most common CFTR mutations
  • if not found, can sequence more of CFTR gene
  • sinus x-ray (parasinusitis)
  • deep throat swab after a gag (pathogens)
    (not specific tests for CF)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Describe the management of CF

A
  • if signs of respiratory disease: assisted mucociliary clearance techniques
  • if signs of GI disease: supplemental, exogenous pancreatic enzymes used to support growth/nutrition
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is the management of CF if respiratory disease?

A
  • augmented airway clearance to mobilise secretions from airway walls into lumen to be coughed out
  • use of antibiotics to treat pulmonary infections
  • manual chest physiotherapy
  • active cycle of breathing high-frequency oscillatory vest device (VEST therapy)
  • flutter valve
  • positive expiratory mask
  • non-invasive ventilation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Describe the inhaled therapy options for CF treatment

A
  • short acting bronchodilators (salbutamol)
  • mucolytics (dornase alfa): degrades DNA from inflammatory cells in airway
  • hydrators (hypertonic saline)
  • corticosteroids
  • anti-inflammatory agents
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Describe CFTR modulator therapies

A
  • can partially restore function in mutated channels
  • medicine only effective in people with specific mutations
  • ivacaftor
  • lumacaftor
  • tezacaftor
  • elexacaftor
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What are the considerations for lung transplantation in patients with CF?

A
  • severely decreased lung function
  • requirement for supplemental oxygen
  • evidence of hypercarbia (elevated CO2) with progressive worsening of disease
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What are the absolute contraindications to lung transplant?

A
  • sepsis
  • mutli-organ dysfunction
  • documented non-adherence to treatment
  • patients with colonised burkholderia cepacia class III
  • BMI 40 or above
  • refractory gastro-oesophageal reflux
17
Q

What are the relative contraindications to lung transplant?

A
  • renal insufficiency
  • exceedingly poor functional status, inability to consistently walk less than 600 feet
  • history of pleurodesis
  • severe malnutrition with BMI less than 16
  • fungal infection
  • poorly controlled diabetes
18
Q

Describe the management of acute pulmonary exacerbation in patients with CF

A
  • mild: oral antibiotic with or without inhaled tobramycin for 14 days
  • oral antibiotics: amoxicillin/clavulanic acid
  • moderate/severe: IV antibiotics
  • tobramycin combined with one or two antibiotics with staphylococcus/pseudomonas coverage
19
Q

Describe how pancreatic insufficiency is treated in CF patients?

A
  • pancreatic enzyme replacement therapy and fat-soluble vitamin supplements
  • enzyme replacements: lipase, protease, amylase
  • vitamins: A, D, E and K
  • H2 antagonists/PPIs to provide more alkaline environment for pancreatic enzyme supplement therapy
20
Q

Describe liver disease in patients with CF and how its treated

A
  • obstruction of biliary ducts leading to periportal inflammation and fibrosis
  • can become multiobular cirrhosis associated with portal hypertension
  • treated with administration of oral bile acids
21
Q

Describe intestinal disease in patients with CF and how its treated

A
  • abnormal salt and water balance leading to thickening of stool and intestinal mucus- intestinal obstruction in terminal ileum commonly
  • risk of intussusception (when intestine slides in on itself)
  • neonates: meconium ileus
  • after neonatal period: distal intestinal obstruction syndrome
  • surgery in some states
  • water soluble enemas
  • oral osmotic agents
22
Q

How does CF affect the reproductive system?

A

Males:
- sperm duct blocked preventing movement of sperm

Females:

  • levels of mucus in menstrual cycle change
  • mucus can block cervix so sperm cannot reach
23
Q

Describe the long term management of CF?

A
  • seen by CF team every 3 months
  • history and physical examination at each appointment
  • spirometry
  • annual blood work and CXR
  • disease changes can result in changes in dosage of aminoglycoside medicine
  • monitor serum aminoglycosides and levels of nephrotoxic antibiotics
  • serum creatinine checked weekly and antibiotic dosage adjusted

MD3001 Respiratory (38 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions