Cystic Fibrosis Flashcards
What is cystic fibrosis gene prevalence
1:25
Where does the cystic fibrosis genes lie
On chromosome 7
What is the aetiology of cystic fibrosis
Mutation in the gene CFTR
changing a protein that regulates the movement of salt in and out of cells
What is the result of cystic fibrosis
The result is thick, sticky mucus in the respiratory, digestive and reproductive systems, as well as increased salt in sweat
What are examples of 5 different classification of CFTR mutations
1: No synthesis of CFTR channel
2: No maturation of CFTR - proteased as unrecognised
3: Blocked CFTR - inactive
4: decreased conductance of CFTR
5: decreased abundance of CFTR channels
What Is the basic effects CF mutation can have on the CFTR gate
Quantity of CFTR channels
The function of the CFTR channel - gating/conductance
What is the function of CFTR gate
active transport for chloride ions
Controlling cilla that regulates the liquid volume on the epithelia surface
What is the pathology of a mutated CFTR gate that leads to bronchiectasis
Prevents the transport of chloride ions, so no longer regulates the liquid volume on the epithelia surface
Abnormality leads to:
cilla collapse
-decreased muco-cillary clearance
- production of a thick, sticky mucus in the respiratory and digestive system
- increased bacterial adherence
- Build up mucus and bacterial adherence/colonisation leads to inflammation
- airway damage/ulceration
- Progressive airflow obstruction
= bronchiectasis
Whats is the symptoms of CF in children
Recurrent chest infection
What is the screening process for neonatal babies in the detection of CF
Guthrie test (heel-pin test) for day 5 babies;
- Initial - immunoreactive trypsinogen
- If positive - mutation analysis performed
- Screen positive referred sweat test
What is the management of CF
specialist multidisciplinary team
- Primary care involving surveillance
- early treatment of infection
- Good nutrition
- Active life
What is the benefits of screening for CF
as awareness of leads to:
reduced mortality
increased lung function
increased nutrition
Prevent lower cognitive skills - as find vitamin E deficiency in the brain
What is the two cardinal features of CF
pancreatic insufficiency - due to mucus blockage
Recurrent bronchopulmonary infection
What is the outcome of pancreatic insufficiency
failure to thrive due no absorption of fats and vitamins
Creating abnormal stools - oilly, pale, offensive
What is the management of pancreatic insufficiency
Enteric coates enzyme pellets (deal with fat)
H2 antagonists
Proton pump inhibitors
Good nutrition
- high energy diet
Fat soluble vitamin + mineral supplements
Active life
Why would you not give CF patient with pancreatic insufficiency a low fat diet
As fat is still needed in you body, and the enzyme is tailored to deal with the fat
What is examples of some of the Recurrent bronchopulmonary infection experienced by CF patient
Pneumonitis
Bronchiectasis
Scarring
Abscesses
What Pre infection management is needed for a patient with CF to avoid recurrent bronchopulmonary infection
Segregation of CF patients to prevent cross-infection Airway clearance and adjuncts Mucolytics - break down on mucus Prophylactic antibiotics Annual influenza vaccination
What are common reparatory pathogen in CF
Early years:
Staphylococcus aureus
Haemophilus influenzae
Later years: Pseudomonas aeruginosa Burkholderia cepacia Stenotrophomonas maltophilia Mycobacterium abscessus
What is the treatment options for chronic respiratory tract infection in a CF patient
ANTIBIOITCS
- Suppress bacterial load
- Treat infective exacerbations
Reduce inflammation
What drugs would be used to reduce inflammation in treating chronic respiratory tract infection in a CF patient
Ibuprofen
Azithromycin
Prednisolone
Where else can CF manifest to
GI Dysmotility - muscles of the digestive system become impaired
hepatopathy - liver congestion/liver disease
Upper airway polyps and sinusitis
Diabetes
Bones - osteoporosis
Heat exhaustion
Bilateral absence of vas deferens - reproductive organs fail to work
Vaginal candidiasis; stress incontinence
fertility issues
Male infertility
What kind of disease is CF
Multi -organ disease
Where is the bacteria acquired from in CF
The environment
other CF patients
What is the morphology of pseudomonas aeruginosa do once colonised, what does this cause
Undergoes mucoid change and forms a biofilm
then microcolonies within the film protecting itself from its host so it has high antibiotic resistance
How do you treat pseudomonas aeruginosa
nebulised colomycin with antibiotics - oral ciprofloxacin or i.v. ceftazidime (if the other fails)
The colonisation of pseudomonas aeruginosa and Burkholderia cepacia cause
reduced life expectancy
rapid decline in lung function due to
‘cepacia syndrome,’
When does Stenotrophomonas maltophilia has frequent colonisation
Usually after pseudomonas
but can occur as first Gram negative infection
What respiratory bacterial pathogen is resistant to all anti tuberculosis chemotherapy
Mycobacterium abscessus
Mycobacterium abscessus resistant means the best treatment option with this respiratory infection would be
Lung transplant
What antibiotic administration is used for Staph, Haemophilus and Pneumococcus
Oral
What antibiotics is used for Pseudomonas, Stenotrophomonas and Burkholderia, why?
IV - all have very high antibiotic resistance
What specific type of antibiotic is treatment needed in CF patients
Large doses of two antibiotics
Blactam + amino glycoside
on a two week course
What is the name of a new class of drugs affecting primary defect in CF and what is its mechanisms
Ivacaftor
binds to CFTR, improves the transport of chloride ions
What is the advantages and disadvantages of if Ivacaftor
ADV
Improves lung function 10% predicted
Weight gain
Reduces sweat chloride
DIS
expensive dolla bills
Why in a lung transplant do both lungs need to be transplanted
As the new lung would only be infected by the old one
What is the indications for needing a lung transplant
Rapidly deteriorating lung function - hypoxia
FEV1 < 30% predicted
weight loss
Hypercapnia
Recurrent worse sepsis
Life threatening exacerbations
Estimated survival <2 years
Bad quality of life
What is the purpose of a lung transplant
Not a solution
Prolong survival
and Improve quality of life
What is the major factors that cause contradiction to lung transplant
- Low BMI
- Other organ dysfunction/failure
- On steroids
- Malignancy within 5 years
- Significant peripheral vascular disease
- Drug abuse
- Active infections or microbiological issues
e. g. M. abscessus - Surgical risks
- osteoporosis
What is the symptoms of CF
Chronic purulent sputum production
Recurrent chest infection
(pneumonitis / bronchiectasis / scarring / abscesses)
Weight loss
Fever
What is the signs of CF
haemopytsis (infection)
pneumothroax (older males)
male infertility
nasal polyps
Onset of diabetes - pancreas issues
Failure to thrive due pancreatic insufficiency:
Abnormal oilly and offensive stools (steatorhea) meconium delay in babies (first poop) osteoporosis vitamin D issue malnutrition
