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Pharmacology II > Cystic Fibrosis > Flashcards

Cystic Fibrosis Flashcards

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1
Q

What is the most common lethal genetic disorder in the caucasian population?

A

Cystic fibrosis

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2
Q

What is the average life expectancy for cystic fibrosis?

A

27.4 years

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3
Q

How is cystic fibrosis passed on?

A

Autosomal recessive genetic disease

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4
Q

What glands does cystic fibrosis mainly involve?

A

Exocrine glands

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5
Q

What is the pathophysiology of the cystic fibrosis transmembrane regulator (CFTR) protein?

A

Cystic fibrosis transmembrane regulator (CFTR) protein
Chloride channel in the epithelia of most of the lumens of the body
Transport chloride with accompanying sodium and water
Significant contributor to sodium and water balance
CF is caused by mutations that lead to dysfunction of CFTR protein
More than 1500 mutations

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6
Q

What is the pathophysiology of the CFTR protein dysfunction?

A

Defective electron transport
Decreased chloride secretion and increased sodium absorption

Increase in viscosity of secretions

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7
Q

Is cystic fibrosis the result of a genetic mutation?

A

Yes involves a 3 base pair deletion

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8
Q

What are the organ systems involved in cystic fibrosis?

A 
Gastrointestinal tract
Pulmonary system
Hepatic system
Reproductive system
Bone and joint system
Sweat glands
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9
Q

How does cystic fibrosis present?

A 
Failure to thrive 
Recurrent pneumonia
Meconium ileus
Nasal Polyps 
Uncontrolled asthma
Chronic sinusitis 
Salty taste to skin
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10
Q

How is a diagnosis made for cystic fibrosis?

A 
One or more characteristic signs/symptoms, history of CF in sibling, or a positive newborn screening test
AND
Evidence of CFTR abnormality
Elevated sweat chloride test X 2
Known CFTR mutations
> 70% diagnosed by age 2 years
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11
Q

What is the sweat test consist of?

A

Sample of sweat is collected and concentration of chloride is determined
Positive test is > 60 mmol/L in children and adults

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12
Q

What does the newborn screening measure?

A

Measures immunoreactive cationic trypsinogen (pancreatic enzyme precursor)

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13
Q

What is the goal of therapy?

A

Lead a normal, healthy, active life

CF foundations guidelines require quarterly visits

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14
Q

What should be done at quarterly visits?

A

Vital signs, history, physical exam
Review of therapies (pharmacologic/nonpharmacologic)
Detailed dietary history (stooling/appetite)
Spirometry
Lab work

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15
Q

What complications arise in the GI tract from cystic fibrosis?

A

Deficient secretion of digestive enzymes- Maldigestion of ingested nutrients

Fat-soluble vitamin deficiency

Insulin deficiency

Intestinal obstruction- Meconium ileus, Distal intestinal obstruction syndrome (aka meconium ileus equivalent)

Reflux

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16
Q

What is the presentation for maldigestion of nutritients?

A

Steatorrhea and malnutrition

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17
Q

What is steatorrhea?

A

Stools are foul smelling, bulky, greasy, abnormally high number/day

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18
Q

What is the presentation of malnutrition?

A

Below age-related norms for both height and weight

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19
Q

What are the sx of pancreatic insuffiency caused by cystic fibrosis?

A

steatorrhea, frequent loose stools, flatulence, cramping, bloating, voracious appetite

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20
Q

How is pancreatic insufficiency diagnosed in cystic fibrosis?

A

72 hour fecal fat collection

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21
Q

What is enzyme deficiency caused by in cystic fibrosis?

A

Due to mucous plugging and damage to the pancrease

Amylase, protease and lipase are not available to small intestine

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22
Q

What is the therapy for enzyme deficiency in CF?

A

Pancreatic enzyme replacement
Creon®, Zenpep®, Pancreaze®
—Contain lipase, protease, amylase

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23
Q

When should enzyme replacement be taken?

A

Taken with each meal or snack due to this is when the body normally releases these enzymes and if they arent able to then you need to take them at this time.

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24
Q

Pancreatic enzyme replacement- ADRs

A

Nausea, abdominal cramps, constipation, diarrhea, greasy stools, flatulence
Reports of fibrosing colonopathy reported at high doses

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25
Pancreatic enzyme replacement- clinical issues
Inadequate enteric coating and poor acid resistance: denaturing of enzymes Case reports of poor patient outcomes when switched between brand and generic enzymes
26
Should you fill out the no substitute line when filling out a prescription for pancreatic enzyme replacement?
YES ALWAYS
27
Do pancreatic enzyme replacements now have to be approved by the FDA?
Yes or they are pulled from the market
28
What is the chronic therapy for GI sx associated with CF?
- -High caloric diet- 120-150% nutritional supplements, often require nutritional supplements - -Fat soluble vitamin replacement - ADEK - -May require extra salt
29
Can CF patients develop diabetes? And if so what do you treat it with?
Yes and you treat with insulin
30
What is the complication with GI obstruction in CF patients?
Manifested as distal intestinal obstruction syndrome (DIOS_
31
What are the sx and therapy for distal intestinal obstruction syndrome (DIOS)?
Vomiting, abdominal distention, pain | Therapy- electrolyte lavage solutions (Endpoint is passage of stool, sx resolution)
32
What is the cause of GERD and the treatment for patients with CF?
May be due to recurrent/chronic cough, hyperinflation Treatment Antacids H2 blockers Proton pump inhibitors
33
What are the liver complications associated with CF?
Biliary fibrosis, bile duct proliferation, chronic inflammatory infiltration
34
How do you detect liver damage in patients with CF?
↑ GGT may reflect liver damage even if other liver enzymes are normal
35
Ursodeoxycholate
Decreases liver inflammation and bile duct proliferation
36
What is the system most affected by CF?
Pulmonary system with pulmonary disease
37
What are the manifestations in the pulmonary system a result of?
accumulation of viscous mucus in the small airways
38
What are the consequences to the accumulation of viscous mucus in the small airways of the pulmonary system for CF?
Obstruction Infection Inflammation Chronic rhinitis, sinusitis, nasal polyps
39
What is the goal for the pulmonary system in CF patients?
decrease the long-term rate of lung function decline
40
What is used to decrease the long-term rate of lung function decline in CF patients?
``` Airway clearance techniques (ACT)- important and will be part of the daily regimen Anti-inflammatory agents Chronic antibiotics Mucolytics Bronchodilators ```
41
ACT- Airway clearance techniques
``` Improve ventilation, reduce accumulation of secretions Done at least BID Includes: Chest/back percussions followed by vigorous coughing Flutter valve Exercise Mechanical vest Bronchodilator pre-treatment optional ```
42
Oral corticosteroids
Undesirable side effects
43
NSAID agents- ibuprofen
Decreased rate of decline of FEV1 5-12 years with mild lung disease (FEV1> 60%) Peak plasma concentrations of 50-100 mg/L
44
Anti-inflammatory therapy- azithromycin
``` Given 3X/week Slows decline in FEV1 in CF patients with Pseudomonas Improve FEV1 ~6% Decreased pulmonary exacerbation Well tolerated ```
45
What are the mucolytic agents?
Pulmozyme and mucomyst
46
Mucolytic agent- Pulmozyme
``` Aerosolized recombinant dornase alfa (DNase) Decreases viscosity of sputum Clinical trials show modest improvement 6-12% FEV1 improvement Decreased pulmonary exacerbation 2.5 mg nebulized once daily or BID ```
47
Mucolytic agent- Pulmozyme- ADRs
AEs: hoarseness, voice alteration and pharyngitis
48
Mucolytic agent- Mucomyst
Not generally used | Irritating, bronchoconstriction
49
Nebulized hypertonic saline
Draws water into airways, increases ability to cough out mucus 7% nebulized daily-BID Associated with increased cough
50
Nebulized hypertonic saline- ADRs
Associated with increased cough | May cause bronchospasm (reaction to the hypertonic saline itself)
51
When are inhaled B2 agnosists/inhaled corticosteroids useful for CF?
If the patient also has asthma
52
What is the major pathogen in the first year of life for pulmonary complications in patients with CF?
Staphylococcus Aureus
53
What is the major pathogen by age 3 for pulmonary complications in patients with CF?
Haemophilus Influenzae
54
What is the major pathogen by the age of 5 for pulmonary complications in patients with CF?
Psuedomonas Aeruginosa
55
What do chronic antibiotics do when used for chronic therapy for pulmonary complications in CF?
Prolong time b/w acute exacerbations
56
Tobi (Nebulized, powder for inhalation tobramycin)
P. aeruginosa colonization | Given BID; 28 days on treatment, 28 days off
57
Crayston (nebulized aztreonam)
P. aeruginosa colonization | Give TID; 28 days on treatment, 28 days off
58
What are the immunizations recommended for chronic therapy for pulmonary complications in CF?
Flu vaccine | Streptococcus pneumoniae- Grive b/w 19-64
59
What are the sweat gland complications associated with CF?
Abnormally high concentrations of sodium and chloride in sweat Excessive sweating may lead to salt depletion
60
What are the reproductive system complications associated with CF?
99% of males have congenital bilateral absence of the vas deferens Females may have less than normal fertility Delayed onset of puberty in both sexes
61
What are the bone and joint complications associated with CF?
Low bone mineral density Decreased osteoblasts (make bones) and increased osteoclasts (destroys bones) Calcium and vitamin D supplementation Arthritis May be due to immune complexes formed in response to chronic pulmonary infections Short courses of nonsteroidal and steroidal anti-inflammatories
62
What are the signs and sx of acute pulmonary exacerbation?
``` Increased cough frequency and duration Increased chest congestion Increased sputum production Decreased exercise tolerance Decreased PFTs Decreased weight Decreased oxygen saturation Use of accessory muscles for breathing +/- Fever ```
63
What are the goals of therapy for acute pulmonary exacerbation?
Decrease pulmonary signs and symptoms | Eradication of P. aeuroginosa is unlikely
64
What is the pharmacotherapy for acute pulmonary exacerbation in CF?
Antibiotics, oral or iv S. aureus, H. influenzae P. aeruginosa cover based on sensitivities Generally aminoglycosides in combination with an antipseudomonal penicillin (for adults) Dose at upper end of range patients with CF have increased Vd (volume distribution) and Cl (clearance) (scary for aminoglycosides) Increased nutrition Increased ACT
65
What is the survival rate post-lung transplant for a patient with cystic fibrosis?
5 years | Usually aren't available till >10 yrs
66
What is in the future for CF?
Gene Therapy CFTR modulation Correct the function of CFTR protein VX-770
67
What is the increased survival rate for patients with CF accredited too?
Improved survival is due to improved nutrition, pancreatic enzymes, ACT, early treatment of exacerbations
68
What do the majority of CF patients die from?
Respiratory failure
69
What does the typical patients daily medications consist of?
- -Albuterol nebs BID - -Pulmozyme daily - -TOBI BID - -Hypertonic saline nebs BID - -Airway clearance- 20 mins. vest BID, Exercise - -Azithromycin 500 mg 3X/week - -ADEK vitamin daily - -Multivitamin daily - -Ursodeoxycholic acid 300 mg BID - -Ranitidine 150mg BID - -Creon 12: 2 with every meal 1 with snack

Pharmacology II (23 decks)

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