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Cystic Fibrosis (CF). By Taylor Gray - Coggle Diagram
Cystic Fibrosis (CF)
. By Taylor Gray
Pathogenesis
(1)
CF is due to a genetic mutation, (must inherit two copies of the defective gene) (one from each parent, autosomal recessive)
(2)
The defect alters the CFTR (cystic fibrosis transmembrane conductance regulator), it functions as a chloride channel the protein cyclic adenosine monophosphate (cAMP), the mutation affects the movement of water and salt within the organs resulting in alterations to mucus production
(3)
Chloride is part of salt so the salt stays inside the cell, water follows salt So the water wants to stay in the cell. With the water not wanting to leave the cell it isn't in the mucus. So the mucus with less water is thicker and stickier. Resulting in complications in most organs.The mucus mostly effects:
Liver
mucus can build up and block bile ducts, bile gets traped and causes inflamation and possibel scarring in liver.
Intestine
Because the mucus blocks the tubes so the digestive enzymes can't reach small intetsine so food can go undigested causing GI upset
Pancreas
the tubes in the pancreas that transport enzymes become blocks with mucus, the enzymes get stuck inside and cause inflammation
Lungs
blocks airway, creating damage, and making it hard to breath
Incidence /Prevalence
Has the highest prevalence in the United states among the caucasian race.
About
30,000
in the US are currently living with CF. (70,000 world wide)
1 out of every 2,500-3,500
caucasian babies are diagnosed in the US.
1 in 17,000
african american babies are diagnosed in the US.
1,000
new cases are diagnosed each year
1 in 31,000 asian americans are diagnosed
Indiences everytimes two carriers have a child
25
% the child will have CF
50
% the child will be a carrier and not have CF
25
% the child will not have CF and will not be a carrier
Risk Factors
Genetics
Having a parents or relative with the CF or the gene
There is a 1 in 4 chance that the child of parents who are both carriers will have CF
Race/ethnicity
Cystic fibrosis is most common in northern european ancestry
Diagnostics
(majority of kids are diagnosed at age 2)
sweat chlorine test
This test looks for chloride (which is component of salt) if this comes back positive a genetic test is run next.
Genetic/carrier test
Looks for genetic mutations that would cause CF
clinical evaluation
Looking for signs and symptoms
Nasal linning test
running of small electric currents across the nasal linning, different substances are applied to the nasal linning and if of has CF the current reacts a certain way.
Clinical Manifestations
Respiratory
Wheezing/shortness of breath
Persistent cough
recurrent lung infection
Pneumonia and Bronchitis
stuffy nose
stuffy sinuses
recurrent sinus infection
nasal polyps
Clubbing of fingers and toes
Digestive
Greasy and foul smelling stools
Constipation
Nausea
swollen abdomen
loss of appetite
poor weight gain and delayed growth in kids
rectal prolapse
Other
Salty skin
Male infertility
Treatment
(no cure but therapies and treatments can help)
Holistic
Nutritional plans
Improvements in overall health, healthy immune systems, and help to make up for vitamins and nutrients that can be hard for CF patients to absorb
Fitness plans
Can help with airway clearance and overall health
Chest therapy
This is to improve airway clearance
ACT techniques
Coughing
Airway clearance vests
Chest physical therapy
Medications
anti-inflamatory
Reduce inflammation caused by persistent mucus
Examples
: Prednisone, high doses of ibuprofen (have been shown to work but rare due to ulcer risk)
antibiotics
Help fight off chronic lung infections and chronic sinus infections
Most common ones prescribed for cystic fibrosis patients:
Gentamicin, Piperacillin, Cephalexin (Keflex), Ceftazidime (Fortaz, Tazicef), Ciprofloxacin (Cipro XR, Proquin XR), Trimethoprim/sulfamethoxazole (Bactrim DS, Septra DS), Chloramphenicol
CFTR Modulator Therapies
Kalydeco
(Ivacaftor)
Indication
: Mutations to genes G551D, G1244E, G1349D, G178R, G551S, R117H, S1251N, S1255P, S549N, or S549R mutations
Adverse effects
: Body aches/pain, chest pain, chills, cough, ear congestion, fever, headache, runny nose, unusual fatigue
Nursing indications
: tell patients to watch for pale stool and dark urine, use caution when driving, do not use St. Johns wart
Orkambi
(lumacaftor ivacaftor)
Indications
: two copies of F508del mutation in their CF transmembrane conductance regulator (CFTR) gene
Nursing implications
: Tell patients to avoid grape juice, take a detailed history of medicines (lots of drug interactions), use with caution is pregnant or breastfeeding , Patients should take with fat containing foods (ex. avocados), this medication can interfere with hormonal birth control
Adverse effects:
difficulty or labored breathing, tightness in chest, upper abdominal or stomach pain
Trikafta
(elexacaftor/tezacaftor/ivacaftor)
Indications
: patients who have at least one copy of F508del mutation in their CF transmembrane conductance regulator (CFTR) gene or another mutation that is responsive to this medicine
Nurisng implications:
Only for ages 12 and older, tell patients to avoid alchohol, nicotine, and grapefruit juice, take detailed drug history (lots of interactions), do NOT crush or chew pills,
Adverse effects
: Body aches, chills, cough, diarrhea, fever, ear congestion, sneezing, sore throat, fatigue, runny nose
Symdeko
(tezacaftor/ivacaftor)
Adverse effects:
Headache, Nausea, Sinus congestion, Dizziness
Nursing implications
: advise patients not to take St. John's, Use caution when pregnant, use caution when driving, only for patients six years or older
Indication
: It is only used for patients who have two copies of F508del mutation, or who have at least one mutation in their CF transmembrane conductance regulator (CFTR) gene
Mucus thinners (ex. mucolytics) Inhaled medications that help thin mucus in lungs
Dornase Alfa (Pulmozyme)
Route
: nebulizer (inhaled)
Adverse effects:
voice changes, trouble swallowing, trouble breathing, tender swollen glands in neck, runny nose, hoarseness, fever, dry cough
Mechanism of action
: Cuts through DNA of white blood cells breaking up the mucus
Hypertonic Saline
Route
: Nebulizer
Adverse effects
: increased cough, sore throat, chest tightness
Mechanism of action
: increases sodium in airways, the salt attracts water and thins the mucus
Bronchiodilators
Widens airway and help certain muscles relax, making breathing easier
Most common: Albuterol, xopenex, combivent
Lung transplants!
Sources
https://www.fda.gov/news-events/press-announcements/fda-approves-new-breakthrough-therapy-cystic-fibrosis
https://www.cff.org/Life-With-CF/Treatments-and-Therapies/
https://www.cff.org/What-is-CF/Diagnosed-With-Cystic-Fibrosis/
https://cysticfibrosisnewstoday.com/cystic-fibrosis-statistics/
https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700
https://www.healthline.com/health/cystic-fibrosis
https://www.lung.org/lung-health-diseases/lung-disease-lookup/cystic-fibrosis/symptoms-diagnosis
https://www.nhlbi.nih.gov/health-topics/cystic-fibrosis
https://www.mayoclinic.org/drugs-supplements/tezacaftor-ivacaftor-and-ivacaftor-oral-route/description/drg-20444500
https://www.mayoclinic.org/drugs-supplements/lumacaftor-and-ivacaftor-oral-route/description/drg-20150906
https://www.mayoclinic.org/drugs-supplements/ivacaftor-oral-route/description/drg-20075428
https://www.mayoclinic.org/drugs-supplements/elexacaftor-tezacaftor-ivacaftor-and-ivacaftor-oral-route/description/drg-20476944
https://www.medscape.com/answers/1001602-35935/which-medications-in-the-drug-class-antibiotics-are-used-in-the-treatment-of-cystic-fibrosis
https://www.cff.org/Life-With-CF/Treatments-and-Therapies/Medications/Mucus-Thinners/#:~:text=Hypertonic%20saline%20is%20a%20sterile,(salt)%20in%20the%20airways.&text=Research%20has%20shown%20that%20inhaling,fibrosis%20experience%20fewer%20lung%20infections
.
https://www.cff.org/Life-With-CF/Daily-Life/Fitness-and-Nutrition/Nutrition/Taking-Care-of-Your-Digestive-System/The-Digestive-Tract/#:~:text=About%2090%20percent%20of%20people,stools%20or%20constipation%20and%20blockages
.
https://columbiasurgery.org/conditions-and-treatments/cystic-fibrosis-liver#:~:text=Cystic%20fibrosis%20can%20lead%20to,the%20liver%20cannot%20function%20properly
.
https://www.cysticfibrosis.org.uk/what-is-cystic-fibrosis/how-does-cystic-fibrosis-affect-the-body/symptoms-of-cystic-fibrosis/digestive-system#:~:text=In%20digestion%20in%20people%20with,the%20pancreas%20to%20become%20inflamed
.