Lecture 13 Cystic Fibrosis Flashcards Preview

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Flashcards in Lecture 13 Cystic Fibrosis Deck (29):
1

Mode of inheritance in cystic fibrosis;

population most commonly seen in?

autosomal recessive;

caucasians (most common lethal genetic disease in this population)

2

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

3

what is the CFTR protein?
a ____-gated ___ channel

ATP (cAMP activated) chloride

4

the CFTR protein usually secretes chloride in ___ and ___ and reabsorbs Cl in _____

lungs, GI;
sweat glands

5

most common mutation leads to a ____ protein that is retained in the ____. thus, there are ____ Cl and H2O secretions

misfolded
rER;
decreased

6

increased intracellular ____ causes a compensatory increased in ____ reabsorption via epithelial __ channels --> increase in ____ reabsorption

Chloride, sodium, sodium;
water

7

increased H2O reabsorption causes dehydration of body secretions, also known as ____ of secretions

desiccation

8

abnormal ion balances changes the intracellular ___, which leads to abnormal ____ of glycoproteins and excess ____ of secretions

pH, sulfation;
gelation

9

overall, there is decreased Cl reabsorption in ___ glands and abnormally ___ mucus secreted into the lungs and GI tract

sweat;
thick/viscous

10

hyperviscosity of secretions leads to ____ of glandular ducts, causing recurrent ____, inflammation, and cellular destruction

obstruction, infection

11

lung path:
initially, recurrent infections cause obstruction and inflammation that causes ____ and ____

bronchiolitis, bronchitis

12

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

13

most common/important recurrent pulmonic infection in CF?

pseudomonas

14

Pancreas effects:
____, _____, and symptomatic hyperglycemia

pancreatitis, insulin deficiency

15

____ ____ in newborns is common.

meconium ileus

16

reproductive:
____ in males due to _____;
____ in females. seen as ______

infertility (azospermia), absence of vas deferens;
subfertility, amenorrhea and abnormally thick cervical mucus

17

pseudomonas creates ____ in the lungs of CF patients

biofilms

18

GI affects:
malabsorption with ______ and ______ _____ deficiencies

steatorrhea, fat-soluble vitamin

19

physical findings: ____ ____ and sinusitis;
____ pulmonary signs; delayed maturation, decreased muscle mass

nasal polyps; obstructive

20

newborn screening:
increased _____ _____

immunoreactive trypsin

21

the _____ test is the gold standard. a ____ concentration greater than 60 mEq/L

sweat chloride;
chloride

22

in patients with CF, a low grade infection causes ____ and ____

anorexia, lung damage (bolded in notes)

23

what PFT is typically decreased in patients with CF?the lungs are ____inflated

FEV1, hyper

24

kalydeco (ivacaftor) increases ____ flow in patients with specific gating mutations and improves ____.

chloride; FEV1

25

Nutrition:
____ and ____ replacement should occur, along iwht caloric supplements

vitamin, pancreatic enzyme

26

resp treatment:
____ clears leukocytic debris

dornase alfa (DNAse)

27

CPPD is used to help clear secretions. what does it stand for?

chest percussion and postural drainage

28

in younger patients, ____ is the most common bacteria in respiratory secretions. in older patients, ____ is

staph aureus, pseudomonas

29

what endocirine disorder may occur concurrently with CF?

type 1 diabetes