Cystic Fibrosis Flashcards
define CF
autosomal recessive disorder
what does the mutation in the CFTR gene cause?
increased viscosity and tenacity of mucous produced at epithelial surfaces
how does CF usually present?
frequent respiratory tract infections in early childhood
common infections in CF
- sinusitis
- nasal polyps
which two symptoms occur in later stages when bronchiectasis develops?
- haemoptysis
- breathlessness
GI effects
- meconium ileus
- symptomatic steatorrhea (excess fat in stools)
why do patients with CF suffer from malnutrition?
malabsorption and maldigestion
diagnostic investigations into CF
- sweat test measuring chloride
- blood DNA analysis of gene defect
where is the gene defect?
CTFR mutation on chromosome 7
management of CF
- vaccines, stop smoking, good nutrition, pulmonary rehab
- oxygen therapy
- B2 agonists and ICS (symptomatic relief)
- inhaled mucolytic
- treat with creon if need pancreatic replacement therapy
action of a mucolytic agent
dissolves thick mucus
what is creon
pancreatic enzyme replacement therapy
prognosis
- almost all progress to respiratory failure
- mean survival age is 40
