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
