CF Flashcards
What is CF?
Progressive genetic mutation of the CFTR gene -> multiple organ failure and shortened lifespan
What is the primary cause of death in CF?
Lung infection
How is CF diagnosed?
Genetic testing and sweat test
What group of people are most susceptible to CF?
Caucasians
What is the most common mutation in CF?
∆F508
What does the CFTR gene mutation cause?
- Defective Cl- channel functioning
- Altered ion transport and water/salt homeostasis in sweat glands
- Increased salt content in sweat
- Thick and sticky mucus
What is autosomal recessive inheritance?
Both parents are carriers and offspring has a 25% chance of contracting disease
What are the organ systems that are affected by CF?
- Skin/sinuses
- Lungs
- Lungs
- Liver
- Pancreas
- GIT
- Repro
Skin CF symptoms?
Elevated levels of NACl lost in sweat -> electrolyte imbalance
Sinus CF symptoms?
Chronic rhosinitis and nasal polyposis
How are lungs affected by CF?
Increased mucus viscosity and decreased mucociliary action -> colonization -> chronic lung infection -> destruction
What is the goal of CF therapy?
- Prevent infection
- Maintain lung function
- Optimize nutritional status
- Achieve normal weight
- Promote appropriate growth
What are common bacteria in sputum of CF Patients?
- Staphylococcus aureus
- Haemophilis influenza
- Pseudomonas aeruginosa
- Burholderia cepacia
What is P. aeruginosa?
- G-
- highly drug resistant
- Biofilm protection bacteria from antibiotic penetration
- Most CF adults
Which bacteria strain are most prominent in CF children?
Staph and Haemo
How is the liver affected by CF?
- Accumulation of mucus in bile ducts
- Cirrhosis and portal HTN
How is unsodiol beneficial for CF related cirrhosis?
Increase bile flow and protect liver cells from cytotoxic salts and bile acids
How is the pancreas affected by CF?
- Accumulation of mucus in ducts -> loss of function and secretion of digestive enzymes
- Absence of CFTR limits function of Cl-Bicarb exchanger to secret Bicard -> retention of enzymes and destruction of pancreas
What is the treatment of CF diabetes?
Insulin
How do you screen for CF diabetes?
Destruction of islets of Lang -> decrease insulin production and secretion -> Increased blood glucose
How do you screen for CFRD?
- age 10 annually
- Pre conception planning
- OGTT
- A1c monitoring
How is the GI affected by CF?
Decrease water secretion -> thickened mucus and constipation
How can the destruction of the pancreas affect the GI?
- Malnutrition
- Decreased absorption of ADEK
- Poor growth and caloric loss
- Heartburn/GERD
How does CF affect the reproductive system?
- 97% infertile men
- 20% infertile women
What are important decision points to go over when a CF patient wants to conceive?
- Genetic testing of both patient and partner
- Family planning and contraception
What are the clinical presentation of CF?
- Salty skin
- Cough, SOB
- DIgital clubbing
- Failure to thrive
- Weight loss
- Malnutrition
- Greasy stool
- Eleveted glucose levels
What are steps of the multistep process of CF?
- Newborn screening
- Sweat test
- Genetic or carrier test
- Confirmation of CFTR dysfunction
- Clinical eval by specialists
What are the types of CF management techniques?
- ACT, infection prevention, anti-inflammatory therapies
- Nutrition support
- Disease modifying therapies: GFTR modulators
- Transplants
What are some growth and weight maintenance techniques?
- Pancreatic enzyme replacement
- Adequate caloric intake
What are some bone and health supplements?
- ADEK
- Calcium intake
- NaCL replacement
What are some pharmocotherapies used for CF?
- Bronchodilators
- Lung surface hydration
- Mucolytics
- ACT
- Antibiotics
- Anti-inflammatory (OCS, Azithromycin)
How are OCSs used for CF?
Slows progression of lung disease in patients with CF (not good for chronic)
How is azithromycin used for CF?
Anti-inflammatory properties reducing pulmonary exacerbations
What is the sequence of CF meds for airway clearance regimen? How often do you do this?
- Bronchodilator (albuterol) - dilates lungs
- Hypertonic saline (hypersal) - hydrates lungs
- Dornase alfa (Pulmozyme) - thins mucus
- ACT or HFCWO
- ABX after ACT if needed
BID
What is bronchodilator used for CF?
Albuterol - bronchodilator used to open airways prior to clearance
How do you hydrate the lungs?
Hypertonic saline (Hyper sal) - increases hydration of surface fluid and improves clearance
2YO
What do you use for individuals who can’t use Hyper sal? Qualifications? ADR?
Inhaled mannitol (Bronchitol) BID
Must pass BTT and premeditated with BD before use
Bronchospasm and hemoptysis
What are the mucolytics for CF? Counseling?
Dornase (Pulmozyme) that thins out mucuc cleaving DNA in secretion
Less than 5 YO may have ADRs
Do not mix with other nebulizer meds
What are the pulmonary effects of using mucolytics?
- Increased lung function
- Decreased sputum viscosity
- Decreased pulmonary exacerbations by 28%
What are some airway clearance therapies?
- Percussion and postural drainage (P&PD)
- Positive expiratory pressure (PEP) devices
- Active cycle of breathing technique (ACBT)
- Autogenic drainage (AD)
- Oscillatory PEP devices (OPEP)
- High-frequency chest compression (HFCC) devices
- Exercise
What are the different route of antibiotics for CF? What do they do?
- Inhaled: prevent growth of colonized bacteria -> improve lung function
- IV: severe exacerbations from bacteria
- Oral: prophylaxis or mild exacerbation and ongoing infection
How is P. aureuginosa differ from other bacterial treatment?
2 drug combos due to MDR
What are the advantage of inhaled ABX?
- Increased concentration of site of infection
- Decreased need for IV and toxicity
What are the neb ABX? Brand? Indication?
- Tobramycin (TOBI) - P. aeruginosa
- Aztreonam (Cayston) - P. aeruginosa
- Colistin: P. aeruginosa
- Amikacin (Arikayce): M. avid complex
What does the CF recommendations when handling P. aeruginosa?
Routine oropharyngeal cultures to determine if they’re infected opposed to bronchoscopy
Sputum culture is a good predictor of morbidity and mortality
How do you dose TOBI? Who would you recommend it for?
300 mg BID, 28 days on, 28 days off
Can be alternated with Aztreonam (Cayston) for continuous coverage
<6YO with mild-moderate lung disease and persistent P. ae.
>6 months initial treatment
When would you use IV ABX?
To treat severe exacerabtions
2 IV ABX to treat P. AER.
What are the appropriate IV ABX combos to treat P. aeruginosa?
- B-lactam + aminoglycoside
- B-lactam + fluroquinolone
- B-lactam + colistin
Continue inhaled ABX
Benefits of chronic azithromycin treatment? Warning?
- Decrease PA biofilm formation
- Anti inflammatory
- Improves FEV1
Does not treat P. aeruginosa infection
Dosing and recommendations of Azithromycin?
Patient >6YO with chronic PA colonization
Patient <6 YO initial to delay PA colonization
Dose: ≥40 kg: 500 mg three times a week
How do you monitor Azithromycin treatment?
Acid fast bacteria smear prior to starting then check smear and culture every 6-12 months
When is OCS used for CF?
First line for allergy brochopulmonary aspergillosis (ABPA)
When is ICS used for CF?
Unless they also have asthma
What is the benefit of using ibuprofen for CF?
- Recommended in 6-17 YO with >60%
- Mild PK monitoring
- No evidence for improvement in adults
What kind of vaccines are recommended for CF patients? Kids? Adults?
Kids: Flu (not FluMist), Synagis, COVID
Adults: Boosters and seasonal vaccines
Are CR patients excluded from vaccines?
No, they are not more susceptible to viral infections but outcomes are worse
What kind of diet should CF patients have?
High caloric and fat
110-200% energy intake
Supplemental nutrition
What is the weight goal for CF patients? 20+? 2-20?
Women BMI: >22
Men BMI: >23
Kids: maintain 50th percentile
What are PERTs? Brands?
Pancreatic enzyme replacement therapy that may require H2 antagonist or PPI for alkaline environments
Creon, Prancreaze, Viokase
What is the dosage form of PERTs? Administration/Counseling? ADRs?
Enteric coated
Take before meals, snacks, and ADEKs
Don’t crush (capsules may be sprinkled)
ADR: age <12 years, doses >6000 lipase units/kg/meal for more than 6 months, history of bowel obstruction or IBD
How do you treat PERT OD?
Reduce dose, oral or enema laxatives, surgery
What may occur after excessive dosing of PERTs?
Fibrosing colonopathy
What may you need to supplement in CF patients? Fluids?
ADEK
Salt tablets and fluid containing salt and electrolytes
What supplements improves bone health and osteoporosis prophylaxis?
D, K and calcium
Why do you vitamin D3 or D2?
Better absorption
What are the disease modifying therapies for CF?
- Ivacaftor (Kalydeco)
- Lumacaftor/Ivacaftor (Orkambi)
- Tezacaftor/Ivacaftor (Symdeko)
- Elexacaftor/Tezacaftor/Ivacaftor (Trikafta)
Ivacaftor
Kalydeco
Potentiator
1month
At least 1 mutation in CFTR gene responsive to therapy
Ivacaftor+Luacafotr
Orkambi
Potentiator/Corrector
1 year
2 copies of F508del mutation
Ivacaftor+Tezacaftor
Symdeko
Potentiator/Corrector
6 YO
2 copies of F508del mutation
OR
At least 1 mutation in the CFTR gene responsive to therapy
Ivacaftor+Tezecaftor+Elexacafotr
Tricafta
Potentiaor/Correctors
2 YO
At least 1 copy of the F508del mutation
How do you administer CFTR modulators?
- Taken Q12H
- Mised dose, wait 6 hours between doses
- Take with fat-containing food
- Do not take with grapefruit juice or Seville oranges
DDIs of CFTR modulators?
CYP3A4 (inducers and inhibitors)
ADRs of CFTR modulators? Monitoring?
Nausea, abdominal pain, increased hepatic enzymes, HA, URTI, blurred vision, chest discomfort, dyspnea
BP, hepatic enzymes, liver toxicity, cataracts
When do you require lung transplant for CF?
Severe disease
FEV1<30%, gender, nutritional status, diabetic, sputum, number of exacerbations
Must replace both lungs
What does the daily CF management look like?
- ACR
- Nutrition support
- Personal fitness routine
- ABX and other meds for acute conditions
How should you monitor CF therapy?
- Adherence
- Adequate nutrition, weight, bone health
- ADRs
- Disease and med complications
- Patient and caregiver educations
