Providing in-depth revision notes for cystic fibrosis pathophysiology. Including the causes, symptoms, triggers, risk factors, treatment and diagnosis. Excellent revision for exam period or also just to use a guide for your own revision. Originally made for pharmacy course, however can be used for ...
Cystic
Cystic Fibrosis - An
Chloride imbalance in
inherited autosomal recessive
cells of CF patients
genetic disease caused by
Chloride causes import of
mutation of the CTFR gene. channel sodium into the cell to
closed
balance electrical
Typically a progressive
charge.
lung disease, but can
Cellular sodium
impact multiple organs. Clogs lungs
uptake further,
causing chronic
Fibrosis
Inflammation Can cause infertility, leading to water
infection and
and mucus build significant malnutrition and import into cell
further
up in the lungs. GI problems due to single gene
dehydration so
mutation.
mucus becomes
thicker and
stickier.
Mucus Plugs:
Found not just on top
layer but also
CTFR gene is a key gene penetrated into glands
mutation causing all of lungs so epithelial
these systemic problems. cells which balance pH
also become blocked.
Gene Gene is inherited.
mutation Can be a carrier if Can’t release
identified mutated gene. carbonate causing pH
in 1989 If both parents are Clinical Diagnosis of CF: to become more acidic.
carriers, can inherit Newborn screening (heel prick test):
Most it to offspring. -Measurement of bio marker levels Mucus is deep in mucosal Inflammation Symptoms to diagnose:
common in blood. layers, impacting airways is lifelong Patients will have at
mutation is If screening is -Not available in all countries. least 2 of the following:
and causing systemic
the ΔF508. positive, then sweat Sweat test: issues.
test is done. -Measure the concentration of Pulmonary Effects of CF:
Salty sweat
in patients chloride that is excreted in sweat Defective ion transport causes
The Pancreas: with CF (elevated in CF). airway surface liquid depletion
Key role in GI. Genetic mutation analysis: resulting in impaired mucociliary
Produces digestive enzymes -Confirm F508 alteration in CTFR clearance.
Oral pancreatic enzyme
which are pumped into the DNA. Airways become clogged with thick,
replacement therapy to
proteins. sticky mucus which impairs the
people with exocrine
Produces insulin. The Exocrine Pancreas - Digestion: clearance of microorganisms.
pancreatic insufficiency.
Amylase
Key hormone to -Adjust dose as needed to
Causes patients Lipase Break down food Gastrointestinal tract is affected in many ways: minimise signs/
regulate sugar levels with CF to develop Cholesterol esterase and help with Increased nutrient loss secondary to pancreatic symptoms of
and diabetes. diabetes. Trypsinogen digestion insufficiency. malabsorption.
The Endocrine Pancreas - Blood Proelastase Reduced fat-soluble vitamin deficiency. Several current enzyme
Glucose Control: Phospholipase Frequent gastro-oesophageal reflux and impaired supplements containing
Islets of Langerhans bowel transit.
Contain B-cells -where insulin is Important to give CF pancrelipase, derived from
Liver damage. pigs.
made patients vitamins
Reduced fertility. Consider acid suppression
Treatment of CF: and enzyme
Reduced bone density. for persistent symptoms
Infection replacement.
of malabsorption.
-Vaccinations to prevent flu etc.
Pancreas has CTFR protein on cell Airway clearance Cystic Fibrosis Related Diabetes:
surface. -Physiotherapy Most common co-morbidity in CF
Patients with CTFR detected in pancreas -Bronchodilators and steroids patients.
causes thick pancreatic layer. Mucoactive agents Due to the destruction of insulin
Pancreas becomes locked with pancreatic -rhDNase producing islet cells.
juice which normally should be -Hypertonic sodium chloride/mannitol dry powder Physiotherapy: Treatment requires insulin/anti-
transported to intestines. (children) Encourage and instruct on diabetic therapy.
Sodium is travelling to lungs in CTFR activating agents appropriate physical exercise. Microvascular complications develop as
pancreas, causing dehydration. -Ivacaftor Helps dislodge Demonstrate and teach with diabetes.
-Symdeko mucus from airway clearance
lungs techniques. Lung Transplantation:
-Trikafta
Provide assessment and End stage CF.
Lung transplant
advice regarding inhalation Criteria:
Thick mucus -Limited life expected <2
therapy.
layer with years
Monitor musculoskeletal
bacteria which -Severely impaired quality
problems.
attracts white Ivacaftor: of life.
blood cells. Selective small miscue potentiator of Assessment:
Mucoactive Agents - rhDNase: CTFR. -Prognosis without
In children, Drug binds to rector and forcefully transplant.
CF sputum contains large Recombinant
mannitol dry opens channel to allow chloride ions -Quality of life.
amount of DNA derived from enzyme which
powder is used to to move out, causing hydration. -Contraindications.
neutrophils. breaks down DNA
loosen mucus. But, it is not able to get to every -Education.
Aerolised rhDNase is a
Hydrates the lungs single receptor on every single cell. Some data suggests 9 year
synthetic enzyme that cleaves Mucoactive Agents: cell layer so mucus Effective as it brings back survival post
DNA. Hypertonic Saline comes out readily hydration levels. transplantation.
-To induce sputum in patients breaking DNA
This + exercise -Adjunct to physiotherapy content.
causes mucus to Functions as a hydrating
be less thick. agent that increases Sugar alcohol which
mucociliary clearance, increases hydration of Trikafta:
improve lung function and the perciliary fluid Symdeko: Triple combination
reduce exacerbations. layer. Dual combination therapy
(Tezacafgor/ Ivacaftor/Elexcaftor/
Ivacaftor) Tezacaftor
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