Cystic fibrosis Flashcards
- autosomal […] disorder
- Mutation of […] protein (cystic fibrosis transmembrane conductance regulator) - most common in Delta-[…]
- Defects of […] transport (and therefore water movement by […]) across cell membranes cause mucous secretions in different systems to be very […].
recessive
F508
chloride, osmosis, thick
Respiratory complications
- cough, recurrent […] […], and […].
- Sinusitis and nasal […] are also very common
chest infections, bronchiectasis
polyps
Digestive complications
- Reduced pancreatic […] –> inhibits fat […], causing:
1. […]
2. Deficiency of fat-soluble vitamins ([…])
- These factors contribute to […] weight gain
- Damage to […] –> diabetes mellitus
lipase, absorption
steatorrhoea
(A, D, E and K)
poor
pancreas
Reproductive system:
- Blocked […] tubes –> men unable to conceive naturally.
- Thicker […] mucus
seminiferous
cervical
Groups of complications
- Respiratory
- Digestive
- Reproductive
Presentation: neonates
- […] […] - viscous meconium (from thick mucus)
- Diagnosed and treated with a […] enema.
meconium ileus
gastrograffin
Presentation infants
- Baby’s sweat is very […] - this is noticed when they kiss their baby
- […] growth
- Recurrent chest infections
salty
Faltering
Presentation toddlers
Faltering growth
Recurrent chest infections
Malabsorption syndromes
Presentation older children
Faltering growth
Recurrent chest infections
Malabsorption syndromes
[…] […] puberty
Late onset
Diagnosis
- […] test
- neonatal blood spot test - raised blood […] […]
sweat
immunoreactive trypsinogen
Mx
- Daily chest physio
- prophylactic antibiotics, bronchodilators, and medicines to thin secretions (e.g. […] […])
- […] enzyme replacement ([…]) + fat-soluble vitamins replacement
- […] and […] vaccine
- Severe: lung transplant
dornase alfa
panceratic, creon
influenza, pneumococcal
Sweat test
normal value < 40 mEq/l, CF indicated by > 60 mEq/l
