CF Flashcards

(61 cards)

1
Q

Most common lethal, genetic disease in the Caucasian population

A

CF

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2
Q

what type of disease is CF

A

Autosomal recessive genetic disease

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3
Q

what does CF mainly involve?

A

exocrine glands

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4
Q

CF is an autosomal recessive disease. Which of the following statements best explains what this means?

A

Both mom and dad are carriers of the gene

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5
Q

what is the protein that mutation is in?

A

Cystic fibrosis transmembrane regulator (CFTR) protein

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6
Q

what does the Cystic fibrosis transmembrane regulator (CFTR) protein do normally?

A

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

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7
Q

when it is defected what does Cystic fibrosis transmembrane regulator (CFTR) protein cause?

A

Defective electron transport
Decreased chloride secretion and increased sodium absorption
Increase in viscosity of secretions

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8
Q

what organ systems are involved with CF? 6

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

how does CF present? 7

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

what is the criteria for dx of CF? 2

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

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11
Q

what does NB screen detect?

A

Measures immunoreactive cationic trypsinogen (pancreatic enzyme precursor)

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12
Q

what is a positive sweat test?

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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13
Q

what are GI deficiencies? 5

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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14
Q

how do GI deficiencies present? 3

A

-Steatorrhea
Stools are foul smelling, bulky, greasy, abnormally high number/day
-Malnutrition
Below age-related norms for both weight and height
-Enzyme deficiency
Due to mucous plugging and damage to the pancrease
Amylase, protease and lipase are not available to small intestine

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15
Q

how does pancreatic insuff present?

A

-Pancreatic insufficiency

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

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16
Q

how do you treat enzyme deficiency

A

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

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17
Q

when do you take enzyme replacements?

A

with each meal or snack

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18
Q

what are ADRs of pancreatic replacements?

A

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

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19
Q

what are clinical issues with pancreatic enzyme replacement?

A

Devp before FDA mandated proof of efficacy and safety: Inadequate enteric coating and poor acid resistance: denaturing of enzymes

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20
Q

what diet should CF follow for GI stuff? 3

A
-High calorie diet
120-150% of RDA
Often require nutritional supplements
Oral or via G-tube
-Fat soluble vitamin replacement
A, D, E, K
-May require extra salt
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21
Q

for Diabes in CF –> increases with___ and what are features. how do you treat

A
-Increases with increasing age
Onset during adolescence to adulthood
-Shares features of DM type I and II
-Pharmacotherapy
Insulin
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22
Q

How does DIOS(distal intestinal obstruction syndrome) present?

A

Vomiting, abdominal distention, pain

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23
Q

how do you treat DIOS?

A

-Electrolyte lavage solutions

Endpoint is passage of stool, symptom resolution

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24
Q

why do CF pts have GERD?

A

May be due to recurrent/chronic cough, hyperinflation

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25
how do you treat GERD?
Antacids H2 blockers Proton pump inhibitors
26
what happens to liver in CF
Biliary fibrosis, bile duct proliferation, chronic inflammatory infiltration
27
how do you treat liver disease in CF?
Ursodeoxycholate | Decreases liver inflammation and bile duct proliferation
28
what may reflect liver damage even if other liver enzymes are normal
increase GGT
29
what causes pulmonary disease in CF
accumulation of viscous mucus in the small airways
30
what are the consequences of increased mucous in the lungs?
Obstruction Infection Inflammation
31
what are the pulmonary symptoms?
Chronic rhinitis, sinusitis, nasal polyps
32
what is the goal of tx in pulmonary sysfxn of CF?
Goal is to decrease the long-term rate of lung function decline
33
what is ACT
airway clearance techniques
34
what is the purpose of ACT and how often is it done?
Improve ventilation, reduce accumulation of secretions | Done at least BID
35
what are 4 ACT?
Chest/back percussions followed by vigorous coughing Flutter valve Exercise Mechanical vest
36
what do you use for antiinflamm tx?
NSAIDs and Azithromycin
37
why do you not sue oral corticosteroids for antiinflamm
undesirable SEs
38
what NSAID is used
ibuprofen
39
what does Ibuprofen do?
Decreased rate of decline of FEV1
40
what does azithromycin do? 3
Slows decline in FEV1 in CF patients with Pseudomonas Improve FEV1 ~6% Decreased pulmonary exacerbation
41
how often is azithromycin given?
3xwk
42
what are 2 mucolytic? which is used most often?
Pulmozyme-Aerosolized recombinant dornase alfa Mucomyst
43
what does pulmozyme do for CF
-Decreases viscosity of sputum -Clinical trials show modest improvement 6-12% FEV1 improvement Decreased pulmonary exacerbation
44
what are adverse effects of pulmozyme?
hoarseness, voice alteration and pharyngitis
45
what is mucomyst not really used
Irritating, bronchoconstriction
46
what does Nebulized hypertonic saline do?
Draws water into airways, increases ability to cough out mucus
47
what may Nebulized hypertonic saline cause?
Associated with increased cough | May cause bronchospasm
48
what are Inhaled β2 agonists/ Inhaled corticosteroids used
Useful if patient also has asthma
49
what is the major pathogen by first yr of life?
Staph aureus
50
what is the major pathogen by age 3?
H.flu
51
what is the major pathogen by age 5 and is colonized?
pseudomanas aeruginosa
52
what are 2 other pathogens that may cause pulmonary stuff?
Bukholderia cepacia, Stenotrophomonas maltophilia
53
what is chronic Abx used for?
prolong time between acute exacerbations
54
what are 2 chronic abx used? | and what do they cover?
TOBI® (nebulized, powder for inhalation tobramycin) Cayston® (nebulized aztreonam) Pseudomanas
55
what occurs in the sweat glands of CF pts and what does it cause?
Abnormally high concentrations of sodium and chloride in sweat Excessive sweating may lead to salt depletion
56
what occurs in the reproductive systems of CF pts? males, females, and both?
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
57
what bone and jt d/o do CF pts have
-Low bone mineral density Decreased osteoblasts and increased osteoclasts -Arthritis May be due to immune complexes formed in response to chronic pulmonary infections
58
how do you tx bone and jt d/o in cf pts?
Calcium and vitamin D supplementation Short courses of nonsteroidal and steroidal anti-inflammatories
59
what are the Signs and Symptoms of acute pulm exacerbation? 9
``` 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 ```
60
how do you treat acute pulmonary exacerbations? what pathogens may be causing it? 3
Antibiotics, oral or iv - S. aureus, H. influenzae P. aeruginosa cover based on sensitivities Generally aminoglycosides in combination with an antipseudomonal penicillin Increased nutrition Increased ACT
61
what does the typical pt take or have to do? 11
``` Albuterol nebs BID Pulmozyme daily TOBI BID Hypertonic saline nebs BID Airway clearance Azythromycin ``` ``` ADEK vitamin daily Multivitamin daily Ursodeoxycholic acid 300 mg BID Ranitidine 150mg BID Creon 12: 2 with every meal 1 with snack ```