Cystic Fibrosis Flashcards
What is CF
Genetic disease leading to abnormal viscous mucous: blocks airways & lungs resulting in repeated chest infections & chronic consolidation
What mechanism fails in CF
No functioning cystic fibrosis transmembrane conductance regulator
-No Cl pumped into lumen
-Results in unopposed Na flow & increases osmotic gradient
-H2O flows from lumen into cell creating sticky secretions as abnormal salt transport
How many classes are there of CF
Whats most common
5 classes
II is most common
What mutation confirms CF
Del508
Aetiology of CF
Autosomal recessive mutation of material coding for the CF transmembrane regulatory (CFTR) protein
What infection has worst prognosis
Pseudomonas
-In adulthood each individual has unique strain (why advised not to mix)
Clinical Presentation age range
0-2yo with recurrent infections, large offensive stools and failure to thrive
Adults present sporadically
CF respiratory symptoms
Recurrent infections
Chronic cough & sputum production
Dyspnoea
Haemoptysis
Nasal polyps
CF GI symptoms
Gall bladder stones
Cirrhosis
Voracious appetite in kids
Distal intestinal obstruction syndrome YA
CF other symptoms + Signs
Salty sweat, male infertility & CF related diabetes
Clubbing, cyanosis, chest hyperinflation & bilateral crackles
Investigating CF
genetic tests for CFTR mutation
sweat tests
Antibiotics for staph aureus colonised CF
Oral flucloxacillin & Septrin
Antibiotics for Pseudomonas colonised CF
Oral Azithromycin
Neb Colomycin, Tobramycin & Aztreonam
Inhaled - tobramycin
Treatment for resp problems
mucus clearance
preventing infection
maintain good lung function
physiotherapy
Sputum samples regularly
Kaftrio CFTR modulator
Lung transplant considered FVC <40%
Treatment for pancreas endocrine vs exocrine failure
Endo = Diabetes management
Exo = CREON treatment
