Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

PHA 550 > Cystic Fybrosis > Flashcards

Cystic Fybrosis Flashcards

1
Q

Cystic Fibrosis

A

autosomal recessive

MC life limiting genetic disorder in caucasian population

life expectancy: 40 yrs

salty

later onset chronic bacterial infection of airways

adequate pancreatic exocrine function or pancreatitis

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

CFTR membrane protein

A

Normal:
transports Cl- ions outside cell –> neg charge outside –> Na+ ions follow to outside–> water leaves cell –> thin mucus

Mutation:

  • no transportation
  • high electrolyte concentration in cell
  • water stays in cell
  • thick mucus –> blocked lung channels –> obstruction, infection, inflammation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Long arm chromosome 7 and CFTR gene

A

88% delta F508

also G551D

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

CFTR Mutations: Class I

A

defective protein production

worst to have

no synthesis

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

CFTR Mutations: Class II

A

MC

defective protein processing

includes delta F508

second most detrimental to have

reduced trafficking

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

CFTR Mutations: Class III

A

defective regulation

includes G551D

gating mutation (impairs opening of the ion channel)

reduced gating

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

CFTR Mutations: Class IV

A

defective conduction

decreased conductance

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

CFTR Mutations: Class V

A

reduced number of active CFTR

reduced synthesis

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

Cystic Fibrosis: treatment goals

A

slow/stop progression of disease

allow for normal growth/development

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Cystic Fibrosis: approaches to care

A

good nutrition

pancreatic enzymes and vitamin supplementation

airway clearance and anti-inflammatory therapies

antipseudomonal agents

recognize altered pharmokinetics

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Cystic Fibrosis: treatments

A

chest physiotherapy

antibiotics (tobramycin, aztreonam)

pancreatic enzyme supplements

multivitamins (including fat soluble)

anti-obstructives (dornase alpha, hypertonic saline, N-acetylcysteine, bronchodilators)

anti-inflammatory (macrolides-azithromycin, ibuprofen)

CFTR modulators (ivacaftor, lumacaftor, tezacaftor)

vaccinations (influenza, pneumonia) and palivizumab

supplemental oxygen

BiPAP

lung transplant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Chest Physiotherapy

A

postural drainage

chest percussion (cupped hand)

vibration technique device

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

“Pulmonary Toilet” Regimen

A

6+ yo and concurrent with percussion therapy

  • bronchodilator (opens airways, prevents bronchospasm)
  • hypertonic saline (hydration, facilitates mucociliary function)
  • dornase alpha (dec viscosity of mucus)
  • aerosolized abx
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Anti-Obstructives: bronchodilator

A

beta 2 adrenergic agonists (albuterol)

theophylline

anticholinergic

  • ipratropium (short acting)
  • tiotropium (long acting, no significant improvement)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Anti-Obstructives: inhaled hypertonic saline

A

hydrates the mucus (draws water from airway to re-establish aqueous surface layer)

HyperSal

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

Anti-Obstructives: dornase alpha (rhDNase)

A

Pulmozyme

enzyme mucolytic agent

selectively cleaves DNA

  • reduces mucus viscosity
  • improved airflow
  • dec risk of bacterial infection
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Cystic Fibrosis: hallmark

A

abundant, purulent airway secretions composed of highly polymerized DNA from degenerated neutrophils

produces a viscous mucus (dec mucociliary transport and persistent secretions)

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

Dornase Alpha: ADEs

A 
chest pain
fever
rash
pharyngitis, rhinitis, FVC dec, dyspnea
voice alteration
dyspepsia
conjunctivitis
laryngitis
**dornase alfa serum antibodies (decrease efficacy)**
headache
urticaria
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Should we treat patients with CF with chronic oral antibiotics?

A

No

chronic treatment with ORAL antibiotics is not encouraged

Exceptions:
azithromycin (anti inflammatory)
nebulized tobramycin
nebulized aztreonam
inhaled colistin (MDR)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Cystic Fibrosis: pathogens

A

most prominent: S aureus

PSEUDOMONAS aeruginosa

and others but im too lazy to write them

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Antibiotics: Macrolide (Azithromycin)

A

anti inflammatory + antibacterial

cannot kill pseudomonas - reduce ability to produce biofilms

suppress excessive inflammatory response

3x/week (not daily)

indications:

  • airway inflammation
  • chronic cough
  • reduction in FEV1
22
Q

Antibiotics: Aminoglycoside (Nebulized Tobramycin)

A

improves lung function

reduces acute pulmonary exacerbations

interferes with bacterial protein synthesis

slight resistance

alternate with 28 days on/off treatment

23
Q

Inhaled Tobramycin: ADEs

A

SPUTUM DISCOLORATION

FEV1 decreased, RALES, WHEEZING, VOICE ALTERATION, bronchitis, epistaxis, pharyngolaryngeal pain, pulmonary function decreased, rhinitis, tonsillitis

COUGH, dyspnea, oropharyngeal pain, throat irritation, bronchospasm, upper respiratory tract infection

chest discomfort

malaise, pyrexia

abnormal taste, xerostomia, diarrhea

inc RBC sed rate, EOSINOPHILIA

TINNITUS

24
Q

Antibiotics: Inhaled Aztreonam

A

monobactam (beta lactam)(cross allergenicity w/ other beta lactams unlikely)

antipseudomonal

inhibits bacterial ell wall synthesis

alternate with 28 days on/off treatment

DO NOT REPEAT FOR 28 DAYS AFTER COMPLETION

25
Inhaled Aztreonam: ADEs
FEVER (MC in children) COUGH, nasal congestion, pharyngeal pain, wheezing, bronchospasm chest discomfort RASH abdominal pain, vomiting
26
Ibuprofen
reversibly inhibits COX 1 and 2 enzymes - dec formation of prostaglandin precursors - antipyretic - analgesic - anti-inflammatory - inhibits chemotaxis - alters lymphocyte activity - inhibits neutrophil aggregation/activation - dec proinflammatory cytokine levels must be at greater than 6 months of age
27
High Dose Ibuprofen
indication: <18yo w/ FEV1 >60% 20-30mg/kg of body weight twice daily less decline in pulmonary function maintain weight
28
Ibuprofen: ADEs
EDEMA (Na and H2O retention) dizziness, HEADACHE, nervousness rash, itching FLUID RETENTION EPIGASTRIC PAIN, heartburn, nausea, abdominal pain/cramps/distress, dec appetite, constipation, diarrhea, dyspepsia, flatulence, vomiting, GI BLEED TINNITUS
29
CFTR Modulator: Ivacaftor
Kalydeco CFTR potentiator potentiates/assists in Cl- transport through G551D CFTR protein (inc probability of channel opening)(improves gating abnormality) improves regulation of salt and water absorption/secretion interactions: substrate: CYP3A4 (major) inhibits: CYP2C8, CYP2C9, CYP3A4, P glycoprotein (weak)
30
Ivacaftor (ADEs)
HEADACHE, dizziness rash, acne ABDOMINAL PAIN, diarrhea, nausea oropharyngeal pain, URTI, nasal congestion, NASOPHARYNGITIS, pharyngeal erythema, pleuritic chest pain, rhinitis, sinus congestion, wheezing HYPERGLYCEMIA TRANSAMINASES INCREASE ARTHRALGIA, musculoskeletal chest pain, myalgia bacteria in sputum
31
Orkambi
lumacaftor + ivacaftor combination potentiates CFTR Study results: - improved lung function - reduced pulmonary exacerbactions - improved BMI
32
Lumacaftor: MOA
partially corrects CFTR misfolding by F508del mutation
33
Orkambi: ADEs
``` MC: nausea, diarrhea NASOPHARYNGITIS change in respiration chest discomfort dyspnea ``` ``` less common: FATIGUE rash MENSTRUAL DISEASE flatulence influenza INC CREATINE PHOSPHOKINASE URTI RHINORRHEA ```
34
Symdeko
tezacaftor + ivacaftor ages 12+ take with fat containing food reduce dose in pts with mod-sev hepatic impairment reduce dose when co-administered with mod-strong CYP3A4 inhibitors
35
Tezacaftor: MOA
moves the defective CFTR protein to the proper place in the airway cell surface
36
Tezacaftor and CYP3A enzyme
strong inducer: decreases efficacy of tezacaftor (co-administration not recommended) eg: rifampin, st john's wort mod-strong inhibitor: inhibition of metabolism prolongs clearance and delays half life eg: ketoconazole, fluconazole avoid grapefruit, seville oranges
37
Symdeko: ADEs
headache nausea sinus congestion dizziness
38
Symdeko: monitoring parameters
ALT and AST cataracts (non-congenital lens opacities) in pediatrics
39
Cystic Fibrosis: oxygen treatment
indicated in progressive CF with worsening hypoxemia
40
Cystic Fibrosis: BiPAP treatment
indicated in advanced CF and hypercapnia
41
Cystic Fibrosis: lung transplantation
FEV1<30% or rapid decline in FEV1 (esp young F patients) inc frequency of exacerbations requiring abx refractory/recurrent pneumothorax recurrent hemoptysis not controlled by embolization
42
Cystic Fibrosis: GI treatments
GERD pancreatic enzyme supplementation vitamin supplementation prevention and treatment of cirrhosis
43
GERD: proton pump inhibitors
irreversibly block the gastric proton pump (H+K+ATPase) of the parietal cells ``` omeprazole lansoprazole dexlansoprazole esomeprazole pantoprazole rabeprazole ``` put pts at risk for pneumonia
44
Omeprazole: ADEs
headache, dizziness rash abdominal pain, diarrhea, N/V, flatulence, ACID REGURGITATION, CONSTIPATION BACK PAIN, WEAKNESS COUGH, uri
45
Pancreatic Enzyme Supplementation
backbone of GI therapy lipase+amylase+protease utilized any time they eat dosing calculated using the lipase units eg: pancreaze, creon, zenpep, ultresa, viokace, pertzye
46
Pancreatic Enzyme Supplementation: ADEs
ulcers (w/ prolonged contact with oral mucosa) - administer w/ food - rinse mouth after excessive dose: -fibrosing colonopathy (inflammation, strictures)
47
Vitamin Supplementation
fat malabsorption --> fat soluble vitamin deficiencies (A,D,E,K) dec Ca absorption --> bone loss
48
Vitamin supplementation is based on ...
age
49
Ursodeoxycholic Acid (UCDA)
gallstone dissolution agent dec cholesterol content of bile and bile stones reduces secretion of cholesterol from the liver and reabsorption of cholesterol in the intestines
50
Cystic Fibrosis: Related Liver Disease: ADEs (i actually think this might be able UCDA but who knows)
headache, dizziness diarrhea, constipation, dyspepsia, N/V, flatulence, peptic ulcer back pain, arthritis, myalgia urti, pharyngitis, bronchitis, cough ALOPECIA, rash hyperglycemia uti LEUKOPENIA, THROMBOCYTOPENIA cholecystitis INC SERUM CREATININE

PHA 550 (26 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions