Cystic fibrosis Flashcards
Describe the genetics and presenting features of cystic fibrosis.
autosomal recessive disease. Patient has to inherit both genes to become deleterious.
Occurs due to the mutation of the transmembrane conductance regulator protein (CFTR) coded on chromosome 7
Define the possible complications of cystic fibrosis.
Depends what mutate gene you inherit. Effects CFTR protein in terms of making it, processing it, trafficking cell membrane, insertion into the membrane and stability in the membrane
class 1-3 are more severe as no functioning protein is made
class 4-6- they have functioning protein
Outline the management of pancreatic insufficiency
People with CF don’t produce the enzymes that digest food which can lead to diabetes and malabsorption of nutrients- replace enzymes with creon. have a high energy diet and nutritional supplements
Appreciate the differing issues associated with the management of adult and paediatric patients with Cystic Fibrosis
mucus inflammation- airway clearance via physiotherapy, mucolytics and bronchodilators
infection- antibiotics
increased inflammation- azithromycin
fibrosos- oxygen, home ventilation, antidepressants
Appreciate the social, educational and economic impact of cystic fibrosis on the child and the family
barriers to making friends, increased anxiety, time off school and work, large number of drugs, cross infection
Understand the role of transplantation
Need 2 new lungs incase one lung passers infection to the other
FEV1<30%
recurrent pneumothorax, haemotysis
End of life issues
50%>18
if not colonised by bacteria median survival is 40
If colonised then median survival reduces
Have an awareness of emerging CFTR modulator therapies
Each drug addresses different parts of CFTR production, folding, transport and insertion.
Kaftrio is more promising so far
Physiology of CF
Results in abnormal function of the protein channel so chlorine is trapped in the cells. Sodium and water then follow chloride and flow into the cell.
1. dehydrates airway surface liquid and mucous layer
2. thick mucos sticks to mucosal surface
3. difficult to cough up and muscle collects bacteria reducing ability to fight infection so more recurrent chest infections
How can be diagnose CF
Antenatal screening- cel removed from embryo and analysed or Amniocentesis - a procedure in which amniotic fluid is removed from the uterus for testing or treatment.
Neonatal screening- just after birth using a Guthrie test
Sweat testing- measure conc of chlorine in sweat as ppl with CF produce more
Outline the management of chest infections
CFTR abnormality causes abnormal transport of electrolyte across cell membrane in particular chloride, sodium and water leading to dehydration and reduced mucociliary clearance so mucos sticks to mucosal surface and causes inflammation and reduces killing of bacteria
mucus sits on mucosa and can’t cough it up so more prone to chest infections
what can improve quality of life
oxygen and NIV
exercise
advanced care plans
support- mental, physical, social, financial
haemoptysis in CF
bronchial wall destruction causing coughing of blood.
