Mod 8 Cystic Fibrosis Flashcards
Cystic fibrosis [CF] is a life-limiting autosomal recessive genetic disorder;
- caused by mutations in which pair of genes?
Autosomal recessive gene disorder that has mutations are located on Chromosome 7
Cystic fibrosis [CF] is responsible for production of which protein?
Cystic fibrosis transmembrane regulator [CFTR]
Why is Cystic fibrosis transmembrane regulator a problem?
prevents/regulates chloride and bicarbonate cross-membrane transport. leading to:
- abnormal electrolyte and water movement in and out of epithelial cells
- problems w/water movement
Indicators of cystic fibrosis in infants
Development of meconium ileus; something about delay bowel movemnts?
- big meconium that can’t pass through-
- low birth weight; inability to absorb nutrients.
True or False:
- males are infertile while females aren’t
True, males lack the vas deferens
insert slide 8
why is Cystic fibrosis only a 25% chance of being passed on by parents?
It is a recessive gene; offspring will either be carries or will require both parents will need to have a copy
- 25% chance of no disease (or having it)
- 50% of being a carrier
Describe the pathophysiology of Cystic fibrosis [CF] that causes problems
Airway surface liquid dehydration due to uncontrolled activity of epithelia sodium channels
Morbidity and mortality of CF pts is due to what?
Chronic airway infection, leading to irreversible end stage resp. failure.
Cystic fibrosis [CF] will be encountered by which routes?
Referral from paediatric clinics and new diagnosis in adult life
slide 11
CFTR malfunction results in what alterations in the lungs?
Build up of thick mucous in airways leading to resp. insufficiency.
In Cystic fibrosis [CF] what a causes bacterial colonization of the resp. tract?
A combo of decreased mucociliary clearance and an altered ion transport.
- dehydration limits mucus covering cilia, and hence fluid movement
Cystic fibrosis [CF] common bacteria? slide 12
Pseudomonas aeruginosa
Impaired mucociliary clearance leads to small bronchi and broncioles becoming
partially or fully obstructed
Partial obstruction in bronchi lead to
overdistenion of alveoli
complete obstruction in bronchi leads to
atelectasis and bronchiectasis
Heterogeneity of lung function of Cystic fibrosis [CF] presents what symptoms in advance stages?
slide 13 + slide 14?
what other systems are affected by Cystic fibrosis [CF]?
- recall, CF is a systemic condition
GI tract (malabsorption)
- fat solvable vitamin deficiency (a,d,e,k(
Recurrent pancreatic
Gerd
Increased risk of Chrons disease
Constipation
What are common clinical scenarios in late Cystic fibrosis [CF]? (5)
- Recurrent chest infections
- widespread bronchiectasis
- poorly controlled asthma
- Nasal polyps, severe chronic rhinosinutis
- electrolyte distrubances
For pathway and responses for management; refer to charts one slide 16-18 for early -> advanced stages
Diagnosis of Cystic Fibrosis [CF] is based on what clinical findings?
Sweat chloride test = gold standard
- both clinical and functional criteria must be met to diagnose CF
Clinical indicators of Cystic Fibrosis [CF] in the pulmonary system?
- wheezing
- chronic cough
- sputum collection
- freq. resp. infections
- nasal polyps
- abnormal CxR [obst/restrictive proccess]
- parainsuitis
-digital clubbing
Clinical indicators of Cystic Fibrosis [CF] in the GI system?
slide 21
Sweat chloride test interpretation in infants 6 months or younger
- ≤29 mmol/L: Normal (CF very unlikely)
- 30-59mmol/L: Intermediate (Possible CF)
- ≥60 mmol/L: Abnormal (Diagnosis of CF
Sweat chloride test interpretation in infants older than 6 months and adults
- ≤39 mmol/L: Normal (CF very unlikely)
- 40-59mmol/L: Intermediate (Possible CF)
- ≥60 mmol/L: Abnormal (Diagnosis of CF)
What is the following CxR?
Cystic fibrosis
CxRs for CF typically have what traits?
hyperinflation of lungs
large main pulmonary artery segments
