Cystic Fibrosis Flashcards
(25 cards)
What kind of genetic condition is CF?
Autosomal recessive
What are 3 key consequences of cystic fibrosis?
Affects mucous glands so:
Thick bile and pancreatic secretions
Thick airway secretions
Nearly all males with CF have congenital bilateral absence of the vas deferens
Thick and sticky secretions block the pancreatic and bile ducts and prevent what from entering the digestive tract?
Digestive enzymes like pancreatic lipase
Chronic obstruction of pancreatic and bile ducts in CF can cause…
Liver disease
Pancreatitis
Diabetes
Thick and sticky airway secretions reduce airway clearance and can lead to…
Chronic cough
Bacterial colonisation
Recurrent infections
Can males with CF have children?
Congenital absence of the vas deferens causes infertility but not sterility.
Surgical sperm retrieval followed by in-vitro fertilisation can be used.
Which gene is affected in CF?
Cystic fibrosis transmembrane conductance regulator (CFTR) gene
Which chromosome is the CFTR gene found?
Chromosome 7
What is the most common mutation of CFTR gene in CF called?
delta-F508
Codes for chloride ion channel in epithelial cells in lungs, pancreas, bile ducts and bowel
What is often the first sign of CF?
Meconium ileus
The first stool can be thick and sticky and get stuck, obstructing the bowel
How may CF present later in childhood?
Recurrent lower resp tract infections
Failure to thrive
Pancreatitis
What are some common signs of CF?
Chronic cough
Loose greasy stool (lack of fat-digesting lipases)
Abdo pain and bloating
Poor weight gain
Reduced height
Salty sweat
Finger clubbing
Crackles and wheezes
What are 3 causes of clubbing children?
Cyanotic heart disease
IBD
CF
How is CF screened for?
Newborn bloodspot test
Key diagnostic test though is sweat test if CF is suspected
How is a sweat test to confirm CF taken?
Pilocarpine is applied to patch of skin on arm or leg. Electrodes placed either side of patch. Small current applied stimulating sweat. Filter paper or gauze absorbs sweat and chloride concentration tested.
What chloride concentration indicates CF in sweat test?
More than 60mmol/l
Why is there high levels of chloride in sweat in CF?
CFTR normally reabsorbs sweat but impaired due to malfunctioning CFTR.
Name some common bacteria that colonise airway in CF?
staph aureus
Pseudomonas aeruginosa
Haemophilus influenza
What do CF patient take to prevent staph aureus infections
Long term prophylactic flucloxacillin
Around 25% of CF patients are colonised with pseudomonas. How is it treated?
Nebulised antibiotics
Oral ciprofloxacin
How do CFTR modulator therapies (combo drugs including ivacaftor) work?
Directly interact with CFTR protein to improve its function.
Need to meet specific criteria.
What are standard treatment with physio in CF patients?
Chest physio to clear mucous and reduce risk of infection
True or false: a low calorie diet is advised in CF patients
False
High-calorie is required for malabsorption, increased resp effort, coughing, infections and physio
What can be used to help manage pancreatic insufficiency in CF?
Pancreatic enzyme replacement therapy like CREON tablets
