Lecture 13 Cystic Fibrosis Flashcards
Mode of inheritance in cystic fibrosis;
population most commonly seen in?
autosomal recessive;
caucasians (most common lethal genetic disease in this population)
usually due to a defect in the _____ gene on chromosome ___; typically a deletion of a ____ residue at codon ___
Cystic Fibrosis Transmembrane Conductance Regulator protein (CFTR);
7, phenylalanine, 508
what is the CFTR protein?
a ____-gated ___ channel
ATP (cAMP activated) chloride
the CFTR protein usually secretes chloride in ___ and ___ and reabsorbs Cl in _____
lungs, GI;
sweat glands
most common mutation leads to a ____ protein that is retained in the ____. thus, there are ____ Cl and H2O secretions
misfolded
rER;
decreased
increased intracellular ____ causes a compensatory increased in ____ reabsorption via epithelial __ channels –> increase in ____ reabsorption
Chloride, sodium, sodium;
water
increased H2O reabsorption causes dehydration of body secretions, also known as ____ of secretions
desiccation
abnormal ion balances changes the intracellular ___, which leads to abnormal ____ of glycoproteins and excess ____ of secretions
pH, sulfation;
gelation
overall, there is decreased Cl reabsorption in ___ glands and abnormally ___ mucus secreted into the lungs and GI tract
sweat;
thick/viscous
hyperviscosity of secretions leads to ____ of glandular ducts, causing recurrent ____, inflammation, and cellular destruction
obstruction, infection
lung path:
initially, recurrent infections cause obstruction and inflammation that causes ____ and ____
bronchiolitis, bronchitis
lung path:
later, the increased amount of obstruction can cause _____. this can lead to cor ____, hemoptysis, and/or pneumothorax, eventually resulting in ____
bronchiectasis, pulmonale, respiratory failure
most common/important recurrent pulmonic infection in CF?
pseudomonas
Pancreas effects:
____, _____, and symptomatic hyperglycemia
pancreatitis, insulin deficiency
____ ____ in newborns is common.
meconium ileus
reproductive:
____ in males due to _____;
____ in females. seen as ______
infertility (azospermia), absence of vas deferens;
subfertility, amenorrhea and abnormally thick cervical mucus
pseudomonas creates ____ in the lungs of CF patients
biofilms
GI affects:
malabsorption with ______ and ______ _____ deficiencies
steatorrhea, fat-soluble vitamin
physical findings: ____ ____ and sinusitis;
____ pulmonary signs; delayed maturation, decreased muscle mass
nasal polyps; obstructive
newborn screening:
increased _____ _____
immunoreactive trypsin
the _____ test is the gold standard. a ____ concentration greater than 60 mEq/L
sweat chloride;
chloride
in patients with CF, a low grade infection causes ____ and ____
anorexia, lung damage (bolded in notes)
what PFT is typically decreased in patients with CF?the lungs are ____inflated
FEV1, hyper
kalydeco (ivacaftor) increases ____ flow in patients with specific gating mutations and improves ____.
chloride; FEV1
Nutrition:
____ and ____ replacement should occur, along iwht caloric supplements
vitamin, pancreatic enzyme
resp treatment:
____ clears leukocytic debris
dornase alfa (DNAse)
CPPD is used to help clear secretions. what does it stand for?
chest percussion and postural drainage
in younger patients, ____ is the most common bacteria in respiratory secretions. in older patients, ____ is
staph aureus, pseudomonas
what endocirine disorder may occur concurrently with CF?
type 1 diabetes
