Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

RC Test 4 > B4.076 Cystic Fibrosis > Flashcards

B4.076 Cystic Fibrosis Flashcards

1
Q

what is meconium ileus

A

abdominal distension

failure to pass meconium (first stool after birth)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

what is the CF gene?

A

spans 250 kilo bases on chromosome 7
encodes CFTR protein (1480 AAs)
more than 1800 CF causing mutations in CF gene have been identified
varying degrees of protein dysfunction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

what is CFTR

A

cystic fibrosis transmembrane conductance regulator

conducts chloride and bicarbonate across the cell membrane

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

why do people with CF have salty sweat?

A

Cl cannot be transported out ductal lumen into the tissues, so more Cl binds to Na in the lumen and exits the sweat ducts

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

where are CFTRs found

A

widely throughout body in epithelial cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

what is the pathogenesis of CF

A

loss of CFTR function results in abnormal regulation of airway surface liquid which sets the stage for chronic infection and related inflammation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

what type of disease is universal amongst CF patients?

A

chronic lung disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

why are mutations categorized into groups?

A

categories of mutations can have different effects on protein function
this can be used to provide targeted therapies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

what are some examples of effects of mutations on protein function

A
  1. no functional protein made
  2. protein not trafficked to membrane
  3. defective channel regulation
  4. decreased channel conductance
  5. reduction of synthesis of CFTR
  6. decreased CFTR membrane stability
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

most common mutation

A 
Phe508 del (86.4% of people)
trafficking defect
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

different organ systems affected by CF

A 
general (growth and vitamin deficiencies)
nose and sinuses
liver
gallbladder
bone
intestines
lungs
heart
spleen
stomach
pancreas
reproductive
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

major lung manifestation of CF

A

bronchiectasis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

why are many male CF patients infertile?

A

absence of vas deferens

80-85% of males with CF

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

screening algorithm for CF in newborns

A

immunoreactive trypsinogen/CFTR (IRT/DNA)
- look at IRT level IRT >60
-look at CFTR mutation panel
if unsure after results, check sweat chloride (>60 diagnostic)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

what is immunoreactive trypsinogen (IRT)

A

pro enzyme for pancreatic enzyme trypsin

can accumulate in blood if not distributed appropriately due to pancreatic dysfunction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

clinical symptoms consistent with CF

A

failure to thrive
pulmonary symptoms
meconium ileus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

evidence of CFTR dysfunction

A

elevated IRT
sweat chloride
mutation analysis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

inheritance of CF

A

autosomal recessive
30,000 pts in US
carrier frequency varies from 1/20 to 1/80

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

carrier frequency for Phe503del

A

1/30

most common

20
Q

what is oily stool indicative of

A

pancreatic insufficiency

21
Q

what is pancreatic insufficiency

A

defective CFTR function result in viscous exocrine fluids
fluid becomes inspissated in the pancreatic ducts
pancreatic duct obstruction reduced secretion o pancreatic enzymes

22
Q

what is fecal elastase and what is it used for

A

pancreatic enzyme
will be low in pancreatic insufficiency bc not secreted correctly
used to diagnose pancreatic insufficiency

23
Q

what portion of CF patients get pancreatic insufficiency

A

2/3

24
Q

what digestion specific pancreatic enzymes are reduced in pancreatic insufficiency

A

amylase
lipase
phospholipases

25
Q

treatment for pancreatic insufficiency

A

pancreatic enzyme replacement therapy (PERT)
fat soluble vitamin supplementation
-vitamins A, D, E, and K

26
Q

describe PERT

A

extract of porcine pancreas containing lipase, protease, amylase
prepared in microspheres that protect from destruction by stomach acid
dissolve in alkaline duodenum releasing the enzymes
helps digest fat

27
Q

what is bronchiectasis

A

daily chronic cough and sputum production

bronchial wall thickening, mucopurulent plugs or debris, airway dilation with lack of distal tapering

28
Q

what indicated cylindrical bronchiectasis

A

airway diameter at least 1.5 times the adjacent vessel diameter

29
Q

common lower resp pathogens in young CF patients

A

s. aureus most common

30
Q

most common lower resp pathogen in older CF patients

A

p. aeruginosa

31
Q

what populates the lower resp tract in normal lungs?

A

nothing
should be sterile
once a pathogen is there, it never really goes away

32
Q

discuss the microbiome qualities of the airways of CF patients

A

DNA testing of sputum over time reveals colonies of multiple bacteria, differing from test to test
bacteria coexist in sputum

33
Q

primary treatment goals of CF lung disease

A

mucociliary clearance
anti-infection
restore CFTR function

34
Q

methods of airway clearance

A

postural drainage and chest percussion
high frequency chest wall oscillation
exercise

35
Q

describe dornase alpha

A

selective cleaves DNA

reduces mucous viscosity to improve airflow and decrease risk of infection

36
Q

how is hypertonic saline helpful for CF

A

brings moisture
helps cough
makes mucous less thick

37
Q

anti infective agents used in CF

A

nebulized antibiotics primarily targeting pseudomonas (tobramycin, aztreonam)
MRSA - dry power vancomycin

38
Q

typical CF patient treatment procedure

A 
chest wall oscillation vest+
albuterol bronchidilator
HTS
dornase
nebulized antibiotic
39
Q

discuss the function of the endocrine pancreas

A

contain islets of Langerhans
healthy people have 1 mil islets
pancreatic beta cells within islets secrete insulin

40
Q

pathogenesis of CF related diabetes

A

viscous secretions cause obstructive damage to the exocrine pancreas with progressive fibrosis and fatty infiltration
disruption and destruction of islet architecture leads to reduced insulin secretion

41
Q

how is CF related diabetes diagnosed

A

screening at 10 years old

oral glucose tolerance test

42
Q

treatment for CF related diabetes

A

insulin therapy

diet: increased calories but with lower glycemic load

43
Q

what is personalized medicine

A

a form of medicine that uses information about a person’s genes, proteins, and environment to prevent, diagnose, and treat disease

44
Q

what is an example of a personalized drug for CF patients?

A

small molecule drug can restore CFTR function in G551A mutation

45
Q

CF medicine aimed to repair RNA

A

modified RNA oligonucleotide designed for inhalation

result in translation of wild type CFTR

46
Q

CF medicine aimed to repair DNA

A

no DNA correction technique proven successful to date

CRISPR/Cas9 gene editing

RC Test 4 (22 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions