Lecture 33: Cystic Fibrosis Flashcards
What is some of the Epidemology Cystic Fibrosis?
- Lethal Genetic Disease
- 1 in 3000 people have it
- Autosomal Rescessive [mother/father have 1 gene for it]
What is Cystic Fibrosis mainly caused by and whats is most common mutation?
- Mutations within the CFTR
- Most common is F508del
Breifly explain what happens when there is a CFTR Channel that is absent or reduced within the Lungs?
- Normal: CFTR moves Cl into mucus and H20/Na into cell
- Abnormal: Cl cant move out [NO CFTR]; alot of H20/Na move in helping bacteria get in
What is the important Newborn Screening Test that should be done with ALL babies?
- Blood Spot [from heel]
- Immunoreactive Trypsinogen [IRT]
- Sweat Test [+ = >60mEq/L]
if you have 1 (+) = sweat test; 2 (+) = CF testing
What are some of the presenting signs and symptoms for the different age groups?
Neonates? Infants/Childern? Teens/Adults?
- Neonates: Meconium Ileus, Jandice
- Infants/Children: Cough, URI, Wheezing, Weight Gain..
- Teens/Adults: Delayed sexual maturation, Nasal polyposis
What happens when there is a nonsense mutations within CFTR?
- NO CFTR is made = so Cl going anywhere
What happens when there is a F508del mutation with CFTR?
- Barely any CFTR = so not a lot of Cl moving around
What happens when there is a G551D mutation of CFTR?
- Normal amount of CFTR BUT they aint working
What is Kalydeco, and what is in good in?
MOA? Age that its good in? CYP?
- MOA: Helps “open the door” for G551D [CFTR Potentiator]
- Good from 1m to 6y and older
- 3A4 substrate
What are some of the important things to note when taking Kayldeco?
- Take with fatty foods
- Check LFTs [ALTs and ASTs]
- Eye Exams
- Dose adjust for Hepatic Issues
What is Ivacaftor/Lumacaftor [Orkambi], and what is it good with?
- MOA: F508del
- Good in age > 1
What are some of the important things to note when taking Orkambi?
- Take with fatty foods
- AST/ALT checked
- Eye Exams
- Dose adjust in Hepatic issues
- Birth control interaction
- SE: SOB & chest tightness
Lumacaftor = 3A inducer & Ivacftor is 3A substrate
What is Symdeko [tezacaftor/ivacaftor] and what is it good for?
- Approved for F508del
- Age > 6 yo
- Has a tablet in the AM and in PM
What are some of the important things to note when taking Symdeko?
- Take with Fatty Foods
- AST/ALT increased
- Eye Exam
- Hepatic liver adjustment
What is Trikafta [Elexacaftor/Tezacaftor/Ivacaftor] and what is good to know about it?
Missed dose?
- MOA: has 2 agents that “move the door to the wall” and opens it [for both F508del Homo or Herto]
- For Age > 2yo
- Miss dose by 6 hour; take when you remember and skip that evening dose
What are some of the important things to note when taking Trikafta?
- Take with fatty foods
- AST/ALT exams
- Eye exam
- Dosage adjust in LIVER disease
What is the website to see if you qualify?
- www.vertextreatmentshcp.com
What is some of the pathophysiology for the Head?
- Nasal Polyps - 7-56% have [treat: Surgery, Steroids, Nasal Rinses]
- Allergies: Preferred treatment = Nasal Steroids
- Psychological: Depression is common [Treat: SSRIs or Mirtazapine
What is some of the pathophysiology of CF-Lung Disease?
- Can cause ~85% of CF deaths
- Caused by CFTR dyfunctions with thickened mucus
- Exacerbation is VERY common
What are som eof the methods that can help with Airways Clearences?
- Manual Airway Clearence Techniques
- Vest [shakes out the mucus]
- Flutter or Acapella [device that viberates lungs when breathing]
- Huff Coughing [inhale, hold, force exhale]
- Meta Neb
What is the way that Dornase Alfa helps with Maintenance of Lung Treatment?
- MOA: Chops up the mucus to get it out [Cleaves extracellular DNA from neutrophils in mucus]
- Can start daily in those >6 yo
- Daily –> BID
What is the way that Hypertonic Saline helps with the Maintenance of Lung Treatment?
- MOA: Helps water move into the mucus; thinning it out
- Recommended for ALL CFs but can cause broncospams
What is the way that Inhaled Mannitol [Bronchitol] helps with the Maintenance of Lung Treatment?
- MOA: Pulls water into the mucus; thinning it out
- For 18 and older
- Dry power BID [10 capsules]
- Could cause bronchospams so may want to give albuterol
How can Azithromycin be helpful with Maintenance of the Lungs?
MOA? Side Effects? When to use?
- MOA: Immunomodulating Effects [Anti-inflammatory]
- GI side effects
- Recommended with chronic Pseudo
What is the way that Albuterol is able to help with Lung Maintenance?
- MOA: Short acting beta agonist = opens up the airways [decreases bronchoconstriction]
- Used before saline becuase of the bronchospamsa
What are the clinical features of a CF exacerbation?
- Increased Cough
- Increased Sputum Production
- SOB
- Chest Pain
- Loss of appetite
- Loss of weight
- Decreased Lung Function Test
For antibiotic therapy in CF, what are some of the pathogens that are needed to be covered?
- S. Aureus [MSSA or MRSA]
- Pseudo
- H. Flu
- K. Pneumonia
- E. Coli, Streno
- Aspergillus
- Achromobacter
What is the Empiric IV Therpay for someone that has MSSA and/or MRSA?
- MRSA: give bactim, clinadmycin, Vancomycin, Tetrecycilne, Linezoild
- MSSA: Cafazolin, Unsyn…
What is the IV therpay for someone with Pseudomonas?
- Double coverage
- Pip/tazo, Meropenem, Cefepime + [Tobra or Amikacin]
When might using the Inhaled Tobramycin might be good in your patients that has CF?
- Used for Eradication of Pseudo in lungs [Sick or Not]
- +3 cultures = Chronic Suppression of Pseudo [28d on and 28d off]
When might the use of Aztreonam be used?
- eflow Nebulizer
- During the off months of Inhaled Tobra [used for chronic pseudo and when patients can not tolerate tobra alone]
What is the reasoning behind using Nebulizations?
- Reduced Systemic Exposure
- Decreased Systemic Side Effects
- Chronic Administration for Pseudo WITHOUT IV
- Higher Drug concentrations in sites
What is important to know about the Pancreas in CF?
- Insufficieny is 85%
- Treat with giving Pancreatic Enzymes [500-2500 lipase/kg per meal]
- Creon is most commonly used
What is importnat to know about the stoamach during CF?
- Stomach Pain and Indigestion is normal
- Take a PPI [-prazoles] or H2RA [Famotidine]
Acid suppression therapy may help with pancreatic anzyme activity BUT may also decrease Ca absorption
What are the Vitamins that are used and what is the important monitoring for each?
- Vit A: Monitor the levels
- Vit E: Monitor the levels
- Vit D: 25-OH – goal > 30 [give cholecalciferol]
- Vit K: PT/INR
Is cystric Fibrosis Related Diabetes the same this a like Type I or Type II Diabetes?
- NO; not the same as Type I or Type II
- A1c is NOT reliable for diagnosis
- Ketoacidosis is rare
what is important to know about the effectice of CF on Reproduction?
- 95% of male are sterile because of the Vas Defernes
- Contraception is encouraged
What is important to know about the Bones during CF?
- Ostroporosis/Ostropenia can happen
- Give Calcium, Vit D or Bisphosphonates
