Cystic Fibrosis Flashcards
1
Q
Cystic Fibrosis
A
autosomal recessive condition
2
Q
what gene is affected and which chromosome
A
CFTR gene on chromosome 7
3
Q
what is the pathology
A
excess Cl secretion and increased Na absorption
4
Q
signs
A
neonatal:
meconium ileus
rectal prolapse
resp:
recurring chest infections
bibasal crackles
nasal polyps
GI:
steartorrhoea
DM
infertility
failure to thrive
5
Q
investigations
A
heel prick test
sweat test
6
Q
management
A
antibiotics for infections prophylactic flucloxacillin replacement enzymes chest physiotherapy surgery - lung/liver transplant
7
Q
what are common colonisers and which one worsens the prognosis
A
staph aureus
psuedomonas - worsens prognosis
