Cystic fibrosis Flashcards

1
Q

What is the gene mutation in cystic fibrosis?

A

most common - homozygous for F508 deletion gene mutation (autosomal recessive)

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2
Q

What is the protein deficiency in cystic fibrosis?

A

CFTR protein

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3
Q

What does CFTR protein deficiency causes?

A
  • problems in salt and water movement across cell membrane

- results in abnormally thick secretions in various organ systems

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4
Q

What is the major cause of morbidity in cystic fibrosis?

A

lung involvement

- depleted perciliary layer in the lung leads to impaired mucociliary clearance and altered host defense

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5
Q

What are the typical clinical features of cystic fibrosis?

A
  • chronic sinus infections and nasal polyps
  • recurrent respiratory infections and bronchiectasis
  • exocrine pancreatic insufficiency
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6
Q

What test should be performed if there is a clinical concern for cystic fibrosis?

A

sweat test

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7
Q

What are the therapies for cystic fibrosis?

A
  • nutrition - enzyme supplementation for exocrine pancreatic insufficiency, high caloric, high protein, high fat diet, daily salt supplement
  • lung disease - airway clearance treatment (daily percussive therapy, recombinant human DNAse, etc); antibiotic therapy targeting common CF related bacteria; anti-inflammatory treatments
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