Cystic fibrosis Flashcards
1
Q
What is the gene mutation in cystic fibrosis?
A
most common - homozygous for F508 deletion gene mutation (autosomal recessive)
2
Q
What is the protein deficiency in cystic fibrosis?
A
CFTR protein
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
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
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
6
Q
What test should be performed if there is a clinical concern for cystic fibrosis?
A
sweat test
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