PBL Flashcards
what are the causes of CF
genetic mutation in CFTR
which is recessively inherited
classes of CF
there are 5 classes of CF
class 1 CF
shortened protein
class 2 CF
F508del, the CFTR protein is not being transported to the surface of the cells in which it is required
class 3 CF
CFTR protein forms a channel in the cell surface, the gate at the end of the channel doesn’t open and close at the right time .
class 4 CF
changes in the shape of the protein channel so chloride ions cannot move easily in and out of the cells
class 5 CF
results in reduced amount of CFTR protein produced by the cells
what is the most common CFTR mutation?
f508del - loss of phenylalnine
another common CFTR mutation
Gly551Asp which causes a mutant chloride ion channel
what are the symptoms of CF?
recurring chest infections due to increased production of sputum coughing wheezing SOB jaundice diarrhoea constipation difficulty putting on weight and growing damage to airways - bronchiectasis bowel obstruction in newborns diabetes infertility weakened bones gasto oesophageal reflux disease due to increased coughing, delayed emptying of the stomach and high fat diet
underlying cause of the symptoms of CF
thick, sticky mucus clogs the lungs
restricted lung function due to thickening of the walls of the airways
tubes transporting enzymes from pancreas to small intestine become blocked by mucus and so enzymes build up and causes the pancreas to become inflamed and the enzymes cannot digest
treatment and management of CF
no cure regular appointments to monitor the condition care plan antibiotics for chest infections medicines to make the mucus thinner - dornase alfa, hypertonic saline and mannitol dry powder medicine to reduce mucus - ivacaftor and lumacaftor bronchodilators steroids vaccinations physio nutrition advice high calorie diet supplements pancreatic enzyme replacement therapy
physio for CF
active cycle of breathing techniques - deep breathing, huffing, coughing and relaxed breathing to remove mucus
autogenic drainage - gentle controlled breathing techniques
airway clearance devices - vibration and air pressure
CF appointments
seen in outpatients by an MDT every 2 months. Symptoms and growth is assessed, screened for chest infections and medication reviewed .
Pneumonia
inflammation of the tissue in one or both lungs caused by bacterial infection most often . the alveolar sacs become inflamed and fill with fluid
