CF Flashcards
CF
genetic disease
autosomal recessive
multi-organ disease
small airways obstruction
recurrent respiratory exacerbations
liver
biliary cirrhosis
gallstones
hepatic steatosis
skin
excessive salty sweat
pancreas
exocrine pancreatic insufficiency
fat soluble vitamin malabsorption
CF related diabetes
bones OP arthritis hypertrophic pulmonary osteoarthropy
congenital bilateral absence of vas deferent
intestine
meconium ileus
distal intestinal obstruction syndrome
fibrosing colonopathy
how does CF occur
Arises from the presence of 2 disease causing mutations in the gene that codes for CFTR (CF transmembrane conductance regulator)
Occurs due to a mutation of the CF gene located on long arm of chromosome 7
CFTR gene provides instructions for making the protein called CFTR
CFTR acts as a channel which transports Cl- out of the cell
CFTR dysfunction
Abnormal transport of Cl- ions across cell apical membrane
↑ sweat chloride
Airway Surface Liquid is less hydrated, secretions more viscous
↑ viscosity predisposes to obstruction, infection & inflammation
Multi system disease – mucosa of airways, pancreas & digestive tract, reproductive organs affected
Over 1300 mutations documented to date – spectrum of disease
summary of pathophysiology of CF
defective CF gene
deficient CFTR protein
altered ion transport Na/Cl
reduced H2O in airways surface liquid –> increased mucus viscosity
–> bronchial obstruction, infection, inflammation
multi organ complications
resp system digestive system nose and sinus pancreas CV system reproductive system pancreas CF related diabetes CF related liver disease MSK changes incontinence
mgmt of CF
teacher play therapist PT dietician SW psychologist pharmacist physiologist microbiology ward staff
role of PT
pulmonary disease sinus disease MSK changes and postural mgmt urinary incontinence haemoptysis pneumothorax critical care pre transplant mgmt post transplant mgmt palliative care and End of life
national clinical programme for CF in Ireland
Outlines how the care of people with CF should be organised and resourced now and in the future
Multidisciplinary Working Group established in October 2015
Review of different national and international guidelines and recommendations regarding CF care
CF has a high prevalence in Ireland and also a higher proportion of more severe CF gene mutations
Switch from ad hoc treatment to a coordinated system of linked specilaist CF centres
National registries, national and international standards of care and clinical guidelines
Improved outcomes in patients with CF
Australia and the UK have similar healthcare systems to Ireland
Additional local considerations to be taken into account
principle of CF care
Newborn screening
Designated specialist CF centre
Specialist multidisciplinary care
>1 CF consultant
Treatments in line with national standards of care
Research, quality and audit improvements
Inpatient, day care and outpatient facilities
Direct access to hospital
Respiratory physiotherapy, nutritional and psychosocial support
Pulmonary function testing
Screening of extrapulmonary manifestations of CF and its complications
Streamlined transition to adult care
Referral to transplant services
Palliative care
Post bereavement psychosocial support
role of physio ACT
Manual techniques
Active cycle of breathing (ACBT)
Autogenic Drainage (AD)
High Frequency Chest Wall Oscillation (HFCWO)
The Vest®
Non Invasive Ventilation (NIV)
Positive Expiratory Pressure including Oscillatory PEP
PEP mask/ Flutter/ Acapella/ Aerobika/ Bubble PEP
airway clearance adjuncts
PEP mask baby PEP acapella flutter aerobic incentive spirometer bubble PEP blow toys autogenic drainage belt ACBT
exercise for CF patients
better lung function and fewer hospitalisations
may help with sputum clearance
improve appetite
assist in obtaining optimal body weight
increases muscle strength and functioning
relieves stress
improved glycemic control improved CV performance improved muscle strength maintain bone mineral density QOL reduce depression reduce anxiety improve self esteem
age appropriate activity
year 1
rollling reaching crawl steeping
toddlers walking running climbing stairs kicking ball throwing pedalling a bike
year 4-6 jumping cycling hopping racket games ball games skipping
years 7-12
structured sports
team games
13+ structured sports team games individual interests improve skills coordination power
exercise testing
Laboratory Testing
CPET
Field Testing
Modified Shuttle Walk Test
6 Minute Walk Test
3 Minute Step Test
drugs for CF
lumacaftor -Ivacaftor
elexacaftor
tezacadtor
kaftrio
triple combination therapy = Ivacaftor + Tezacaftor + Elexacaftor
Available in Ireland from October 2020
Over 12 years of age
ΔF508 / ΔF508
ΔF508 and another minimal function mutated CF gene
