cystic fibrosis Flashcards
definition of CF
genetic multisystem disease associated with abnormalities in salt and water transport across epithelial surfaces.
pathophysiology of CF
abnormalities in the **cystic fibrosis transmembrane conductance regulator **(CFTR), a chloride channel found in cells lining the lungs, intestines, pancreatic ducts, sweat glands, and reproductive organs
epidemiology of CF
highest in European people
most common cause of mortality in CF
primary lung disease and post-transplant mortality
common infection in CF
Pseudomonas aeruginosa
signs and sx and dx of CF
newborn screen
failure to pass meconium
failure to thrive
voracious appetite
wet sounding cough
recurrent infection
chronic sinusitis
genital abnormalities in males
malabsorbtive stool with steatorrohorrhoea
digital clubbing
GORD
RF for CF
FHx
known carrier parents
european
Ix for CF
-
sweat test
* positive (sweat chloride ≥60 mmol/L [≥60 mEq/L]) - genetic test - CFTR test
- CFTR physiological tst
acute mx of CF
meconium ileus
* water soluble contrast enema + NG decompression
intestinal obstruction/peritonitis
* surgery + NG decompression
acute resp infection
* oral/IV abx - amoxicillin
* chest physio
* inhaled bronchodilater
* inhaled mucolytic
* consider NIV +- ox
ongoing mx of CF
resp disease
* chest physio
* inhaled bronchodilator
* inhaled mucolytic
* lung transplant
GI disease
* optimise nutrition
* creon
* PPI
* fat sol vit replacement
* ursodeoxycholic acid for liver disease
* liver transplant
cystic fibrosis transmembrane conductance regulator (CFTR) modulator
complications of CF
distal intestinal obstructive syndrome
pneumothorax/haemopneumothorax
intussusception
chronic resp failure
sleep disturbance
OSA
delayed puberty
acute resp failure
cor pulmonale
drug SE - nephrotox, hearing loss
DM
short
osteoporosis
urolithiasis
depression
anxiety
hypertrophic osteoarthropathy
advanced liver disease
GI cancer
chronic rhinosinusitis
failure to thrive
rectal prolapse
nasal polyps
constipation
haemoptysis
metabolic alkalosis
arthritis
ABPA
rickets
pancreatitis
monitoring for CF
review by specialist every 3mo
dietician
spiromitory
yearly CXR
FBC LFT coag vit A D E
pul FT
CT and MRI lung
annual hearing test - ototoxic drugs
monitor levels of IV aminoglycosides
weekly creatinine when on nephrotoxic
main predictors of mortality in CF
FEV1
rate of FEV1 decline
px of CF
no cure
LE 56yrs
