Cystic Fibrosis 1- MJ Flashcards
Is Cystic Fibrosis (CF) autosomal dominant or recessive?
Autosomal Recessive
What are the 2 main organ systems that are affected by cystic fibrosis?
- Lungs (chronic bacterial infection of airways that is later in onset)
- Pancreas (Pancreatitis)
What membrane protein is affected in Cystic fibrosis and what does this protein normally do?
- CFTR membrane protein
- Transports chloride ions into the extracellular space, which allows Na ions to follow
- Ions go into the mucus resulting in higher conc. of electrolytes outside the cell, causing water to leave the cell—> Making mucus thinner
What happens when the CFTR gene is mutated in Cystic Fibrosis?
- Ions (Na and Cl) can’t be transported across the membrane–> higher electrolyte conc. inside cell and water stays there
- –> Mucus gets thicker (due to less influx of water)
- leads to: obstruction, infection and inflammation
long arm chromosome 7 and CFTR gene:
Which specific mutation most commonly results in Cystic Fibrosis?
88% are caused by delta F508
Class I mutations of CFTR (defective protein production) acount for what %?
2-5%
Which class of CFTR mutations includes the delta F508 mutation (accounts for 88% of the dz causing alleles in the US)?
Class II mutations: defective protein processing
Which CFTR mutation is the most common class III mutation in caucasion populations?
G551D
(“gating mutation”- impairs the regulated opening of the ion channel formed by CFTR)
Are class III CFTR mutations considered:
- defective protein processing
- defective protein production
- reduced # of active CFTR
- defective conduction
- defective regulation
Defective regulation
Are class IV CFTR mutations considered:
- defective protein processing
- defective protein production
- reduced # of active CFTR
- defective conduction
- defective regulation
Defective conduction
Are class IV CFTR mutations considered:
- defective protein processing
- defective protein production
- reduced # of active CFTR
- defective conduction
- defective regulation
Reduced # of active CFTR
Which CFTR mutation has the following:
- Reduced trafficking
- CFTR is mis-processed in the ER, leading to an absence of functional protein at the cell membrane
delta F508
Which CFTR mutation?
- Reduced gating
- CFTR protein reaches the cell membrane, but once there is unstable
**G551D**
What are the 2 goals of treatment of Cystic Fibrosis?
1. *Slow/stop the progression of the dz
2. *Allow for normal growth and development
What are the 5 approaches to care of Cystic Fibrosis?
- *Good nutrition
- *Pancreatic enzymes and vitamin supplementation
- *Airway clearance and anti-inflammatory therapies
- *Antipseudomonal agents
- *Recognize altered pharmacokinetics
What are the 11 possible pulmonary treatments of CF? (in general)
- Chest phsiotherapy
- Abx (Tobramycin, Aztreonam)
- Pancreatic enzyme supplements
- Multivitamins (including fat-soluble vitamins)
- Anti-obstructives
- Anti-inflammatory
- CFTR modulators
- Vaccinations and Palivizumab
- Supplemental Oxygen
- BiPAP
- Lung transplant
Which 2 possible abx can be used as pulmonary tx for CF?
Tobramycin
Aztreonam
Which 4 anti-obstructives can be used to tx CF?
- Dornase alpha (rhDNase)
- Hypertonic saline
- Inhaled N-acetylcysteine
- Bronchodilators (Beta-2 agonists, anticholinergics, Theophylline)
“HIND BAT”
(BAT= B2 agonist, antichol, theoph)
What 3 bronchodilators can be used to tx CF?
Beta-2 agonist
Theophylline
Anticholinergics
“BAT”
Which 2 anti-inflammatory meds can be used to tx CF?
1. Macrolides- Azithromycin
2. Ibuprofen
Why did CF patients used to die young?
because we didn’t have anti-pseudomonal abx
