Cystic Fibrosis Flashcards
What is Cystic fibrosis?
Autosomal recessive disorder increasing viscosity of secretions
Caused by defect in CF transmembrane conductance regular gene (CFTR) on chromosome 7
Codes for cAMP-regulated chloride channel
Describe the pathogenesis of CF?
Caused by defect in CF transmembrane conductance regular gene (CFTR) on chromosome 7
Codes for cAMP-regulated chloride channel
What is the most common mutation causing CF?
delta-F508 mutation
Features of cystic fibrosis?
Thick pancreatic + biliary secretions
Thick airway secretions
What does the thick pancreatic and biliary secretions do?
Blockage of the ducts, resulting in a lack of digestive enzymes in the digestive tract = symptoms of malabsorption
What does the thick airway secretions cause?
reduce airway clearance, resulting in bacterial colonisation and susceptibility to airway infections
Common colonisers in CF patients?
staphylococcus aureus +
pseudomonas cepacia
What is a CF-specific contraindication to transplantation?
Chronic infection with burkholderia cepacia
When are most cases of CF picked up?
Newborn bloodspot test
What is often the first sign of CF?
Meconium ileus
Causing bowel obstruction cause of thick meconium, No passing in 24 hours
- distension + vomiting
Signs and symptoms of CF?
Meconium ileus
Recurrent chest infections
Failure to thrive and steatorrhoea
(def of fat-soluble vitamin ADEK)
- short stature, DM, rectal prolapse, nasal polyps, male infertility
Gold standard investigation
Gold standard = sweat test
sweat chloride >60mmol/L
What is involved with heel prick at birth?
raised immunreactive trypsinogen IRT
then will have a sweat test
Who will be involved with MDT for cystic fibrosis?
Paediatrician
Physiotherapists
Dieticians
nurses
clinical psychologists
pharmacists
How to manage pulmonary complications of cystic fibrosis?
Regular chest physiotherapy 2x a day = optomises lung functioning by encouraging drainage
Mucolytic therpay - rhDNase
Lung transplantation*
C/I : chronic infection with burkholderia cepacia
How to manage nutrician in a person with cystic fibrosis?
High calorie and high fat diet
Fat soluble vitamin replacements
Pancreatic enzyme supplements (Creon) @ every meal
What antibiotics are given as prophylaxis in cystic fibrosis?
Flucloxacillin against staph A pneumonia
Ciprofloxacin against pseudomonas aeruginosa pneumonia
What CFTR modulator can be trialed?
Can correct function of defective CTFR protein e.g.
lumacaftor/ivacaftor
