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850 > Cystic Fibrosis > Flashcards

Cystic Fibrosis Flashcards

1
Q

Cystic Fibrosis

A
  • Progressive, life-limiting, genetic disorder
  • Autosomal recessive
  • More than half of CF population >= 18 y.o.
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2
Q

Pathophysiology

A
  • Mutation of CFTR gene causing CFTR protein to dysfunction
  • Regulates chloride transport across cell membrane
  • Without cholride, mucus becomes thick and sticky
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3
Q

CF Mutations

A
  • Different mutations result in different levels of CFTR function
  • > 2000 mutations
  • F508del - most common mutation
  • Protein misfolded and doesn’t reach cell surface
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4
Q

CF Diagnosis

A
  • Newborn screening: measures immunoreactive trypsinogen, chemical made by pancreas
  • Gold standard: sweat test, sample of sweat collected from skin (Positive >=60 mmol/L of chloride)
  • Chromosomal analysis
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5
Q

CF Involved Organ Systems

A
  • GI
  • Hepatic
  • Pulmonary
  • Reproductive
  • Bone
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6
Q

Signs/Symptoms

A
  • Poor growth/weight gain
  • Meconium ileus
  • Frequent greasy, bulky stools OR difficulty in bowel
  • Frequent lung infections
  • Wheezing/SoB
  • Persistent coughing, occasional sputum
  • Chronic sinusitis
  • Very salty skin
  • Male infertility
  • Nasal polyps
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7
Q

GI Goals

A
  • Control pancreatic insufficiency by providing adequate enzyme supplementation
  • Optimize growth and nutritional status
  • Promote healthy bowel habits
  • Maintain normal vitamin levels
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8
Q

GI Tract Manifestations

A
  • Insufficient secretion of pancreatic enzymes
  • Fat-soluble vitamin malabsorption
  • Insulin deficiency
  • Intestinal obstruction: meconium ileus, DIOS
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9
Q

Pancreatic Insufficiency

A
  • Maldigestion of nutrients
  • Symptoms: steatorrhea, frequent loose stools, flatulence, cramping, bloating, poor weight gain constipation
  • Below age-related norms of weight AND height
  • Result of pancreatic enzyme deficiency
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10
Q

PERT

A
  • Pancreatic Enzyme Replacement Therapy
  • Creon, Zenpep, Pancreaze, Ultresa, etc
  • Contain lipase, protease, amylase
  • Enzyme brands aren’t interchangeable
  • DR capsules with enteric-coated microspheres or minitablets
  • Porcine derived
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11
Q

PERT Dosing

A
  • Based on TBW or fat ingested
  • Dosed on lipase units
  • Taken with every meal and snack

Dosing Options

  • 500-2500 units/kg/meal
  • 10,000 units/kg/day
  • 4,000 units/g of dietary fat/day
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12
Q

PERT Capsules

A
  • Do not crush or chew contents of DR capsules
  • Can open capsule and add to room temperature, acidic foods (applesauce)
  • Must eat immediately and follow with water, juice, formula, breast milk
  • Regular release tablets are swallowed whole with sufficient liquid
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13
Q

PERT AE

A
  • Mucosal irritations
  • Fibrosing colonopathy and colonic strictures (high doses > 6000 lipase units/kg/meal): diarrhea, constipation, abdominal pain
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14
Q

PERT Monitoring

A
  • Stool fat content
  • Abdominal symptoms
  • Nutritional intake
  • Growth
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15
Q

Fat Soluble Vitamins

A
  • Replace A, D, E, and K

- Doses higher compared to those without CF

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16
Q

Nutritional Intake

A
  • Energy intakes can be greater than standard for general population
  • BMI >50-85% for age
  • May require nutritional supplementations like EN
  • Promotes healthy pulmonary function
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17
Q

Insulin Deficiency

A
  • CF related diabetes
  • Prevalence increases with age
  • Associated with worse lung fxn, poorer nutritional status, increased pulm. infections
  • Shares features of DM I and II
  • Treat with insulin
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18
Q

DIOS

A
  • Distal intestinal obstruction syndrome
  • Symptoms: cramping abdominal pain, poor appetite, abdominal distension
  • Therapy: electrolytes lavage solutions: passage of stool being symptom resolution
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19
Q

Hepatic System + CF

A
  • Bile duct obstruction can lead to cirrhosis, portal hypertension
  • Ursodiol: controversial
  • Dosing: 15-20 mg/kg/day; divided BID
20
Q

Pulmonary Systems

A
  • Manifestations result from impaired mucociliary clearance resulting in accumulation of viscous mucus in airways
  • Consequences: obstruction, inflammation, infection
  • Chronic rhinitis, sinusitis, nasal polyps
21
Q

Pulmonary System Goals

A
  • Decrease long-term rate of lung fxn decline
  • Airway clearance techniques (ACT)
  • Anti-inflammatory agents
  • Mucus alteration
  • Restore airway surface liquid
  • Bronchodilators
  • Chronic antibiotics
22
Q

ACT

A
  • Improve ventilation, reduce accumulation of secretions
  • Done at least BID
  • Include chest/back percussions, exercise, percussion vest
  • Bronchodilator pre-treatment
23
Q

Ibuprofen Use

A
  • Anti-inflammatory Treatment
  • Decreased rate of decline of FEV1
  • Given to 6-17 y.o. with mild lung disease (FEV >= 60%)
  • [Peak plasma] = 50-100 mg/L
  • 20-30 mg/kg/dose given BID
24
Q

Azithromycin Use

A
  • Anti-inflammatory treatment
  • Unclear if anti-inflammatory effects are due to antimicrobial and/or immunomodulatory mechanisms
  • Slow decline in FEV1 in CF patients with Pseudomonas
  • Decreased pulmonary exacerbation
  • Dosing: 3x/week
25
Q

Mucus Alteration Options

A
  • Pulmozyme
  • Nebulized hypertonic saline
  • Mannitol inhalation powder
26
Q

Pulmozyme

A
  • Aerosolized recombinant dornase alfa (DNase)
  • Decreases viscosity of sputum
  • Clinical trial show modest improvements in DEV and pulmonary exacerbation
  • Dose: 2.5 mg nebulized once daily or BID
  • AE: hoarseness, voice alteration, and pharyngitis
  • Use selected nebulizer, compressor
  • Don’t mix with other medications in nebulizer
27
Q

Nebulized Hypertonic Saline

A
  • Draws water into airways, improve mucus clearance
  • 3-7% nebulized daily to BID
  • Improve lung fxn, decrease exacerbations requiring antibiotics
  • May cause bronchospasm, pre-treat with bronchodilator
  • Hyper-Sal, PulmoSal, Nebusal (PulmoSal buffered with Na-bicarb)
28
Q

Mannitol Inhalation Powder

A
  • Bronchitol
  • Osmotic agent, draws water into the airways, thins mucus
  • 18 years of age and older
  • Dry powder inhaler
  • Bronchitol tolerance test
  • Albuterol prior to use
  • Inhale contents of 10 capsules twice daily
  • AE= bronchospasm, hemoptysis
29
Q

Pulmonary Chronic Therapy

A
  • Inhaled corticosteroids: if patient also has asthma, not used routinely
  • Inhaled SABAs: pre-treat for irritating inhaled therapies
30
Q

Pulmonary Infection Pathogens

A
  • S. aureus: major pathogen first year of life
  • H. influenzae: major pathogen by 3 y.o.
  • P. aeruginosa: Major pathogen by age 5, colonized
  • Burkholderia, Stenotrophomonas, Aspergillus, MRSA
31
Q

Chronic Antibiotic Therapy

A
  • Intention is to prolong time between acute exacerbations

- Usually inhaled: TOBI/Tobi podhaler, Cayston

32
Q

TOBI

A
  • Tobi Podhaler
  • Nebulized and dry powder inhaler formulations of tobramycin
  • P. aeruginosa colonization
  • Given BID: 28 days on treatment, 28 days off
33
Q

Tobi Podhaler Administration

A
  • 4 capsules inhaled BID
  • Inhale 2 times from each capsule
  • Take doses 12 hours apart
  • Store capsules in blister card until ready to use
  • Do not swallow capsules
34
Q

Cayston

A
  • Nebulized aztreonam
  • P. aeruginosa colonization
  • Give TID; 28 days on treatment, 28 days off
  • Altera nebulizer system
35
Q

Sequence of Inhaled Medications

A
  1. Bronchodilator
  2. Hypertonic Saline
  3. Pulmozyme
  4. Airway clearance techniques
  5. Aerosolized antibiotics
36
Q

CF + Additional Systems

A
  • Reproductive system: majority of males have congenital bilateral absence of the vas deferens
  • Bone disease: low bone density, secondary to vitamin D deficiency, systemic inflammation, corticosteroid use
37
Q

Kalydeco

A
  • Ivacaftor, CFTR modulator
  • Targets the defective CFTR protein, >= 4 month
  • Patient with specific mutations, not homozygous F508del
  • Improves: lung function, weight gain, QoL
  • Expensive
38
Q

Kalydeco Dosing

A
  • Reduce dose: moderate-severe hepatic impairment
  • CYP3A inhibitors: ketoconazole, fluconazole, adjust dose
  • Avoid: the strong inducers (CBZ, phenobarbital, phenytoin)
  • Avoid grapefruit
  • Give with fat containing food
  • Mix granules in 5 mL of soft food or liquid at or below room temperature (stable for 1 hour)
39
Q

CFTR Modulator Warnings

A
  • May increase hepatic transaminases: monitor liver fxn, baseline every 3 mo during 1st year of therapy and yearly after
  • Cataracts
  • CNS effects: dizziness, may impair abilities
40
Q

Orkambi

A

-CFTR modulator
-Lumacaftor + ivacaftor
-2 copies of F508del, >= 2 years
Drug Interactions
-Lumacaftor: strong inducer CYP3A, avoid benzos and immunosuppressants
-Hormonal contraceptives have decreased effectiveness
-Respiratory AEs during initiation: chest discomfort, dyspnea

41
Q

Symdeko

A
  • CFTR modulator
  • Tezacaftor (100mg) + ivacaftor (150 mg) tablet and ivacaftor (150 mg) tablet
  • Co-packaged: take combo tablet in morning and monotherapy in evening
  • > = 6 y.o. with 2 copies of F508del or at least one mutation that is responsive
42
Q

Trifakta

A
  • CFTR modulator
  • Elexacaftor + tezacaftor + ivacaftor
  • > = 12 y.o. with at least one copy of F508del
  • Supplied as 2 separate products packaged together: Combination and ivacaftor
43
Q

Acute Pulmonary Exacerbation

A
  • New/increased cough, sputum production, dyspnea with exertion
  • Increased nasal congestion or drainage
  • Change in sputum appearance
  • Decreased exercise tolerance, energy, pulm fxn tests, appetite, weight
  • +/- Fever
  • Chest x-ray not routinely done, may not shown changes over baseline
44
Q

Acute Pulmonary Exacerbation

A
  • Diagnosis: changes from patient’s baseline

- Goals: decrease pulmonary signs/symptoms, eradication of P. aeruginosa is unlikely

45
Q

Acute Pulmonary Exacerbation Treatment

A
  • Antibiotics oral or IV
  • Choice depends on cultures/sensitivity reports, dose at upper end (approach normal pop parameters with age)
  • P. aeruginosa generally uses aminoglycosides in combo with antipseudomonal penicillin
  • Increased nutrition
  • Increased ACT
46
Q

Investigational Therapies

A
  • New CFTR modulators
  • Antibiotics: inhaled levofloxacin
  • Non-porcine derived enzymes

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