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
what are the causes of pneumonia?
bacteria fungi virus aspiration hospital acquired ventilator associated
what are risk factors for pneumonia?
babies/ very young children
elderly
smokers
people with other health conditions - asthma, CF, heart/ kidney/ liver conditions
people with weakened immune systems - recent illness, HIV/AIDs, chemotherapy or immunosuppressant use
symptoms of pneumonia
coughing SOB fever tachycardia difficulty breathing tiredness loss of appetite chest pain that is worse when coughing headaches wheezing joint and muscle pain confusion coughing up blood sweating shivering nausea
diagnosis of pneumonia
respiratory history respiratory examination check vitals auscultation percussion chest x-ray blood test sputum test pulse oximetry CT scan and pleural fluid = rare
treatment for pneumonia
mild can be treated at home with rest, antibiotics and hydration
cough medicine
aspirin and ibuprofen to reduce fever
ITU if ventilation needed
different antibiotics are used depending on infection, PMH, patterns of local antibiotic resistance, cost, age, weight, allergies and previous antibiotic use
what are first line antibiotics for pneumonia?
macrolide - clarithromycin
tetracycline - doxycycline
complications of pneumonia
common in young children and those with pre-existing health conditions pleurisy lung abscess blood poisoning - sepsis requires admission to hospital
what is popcorn lung?
nickname for bronchiolitis obliterans. Damages the smallest airways.
Bronchioles and alveoli become irritated and inflamed, causing scarring and narrowing of bronchioles
what are the symptoms of bronchiolitis obliterans?
coughing - dry
SOB
wheeze with no other explanation
tired with no other explanation
diagnosis of bronchiolitis obliterans
respiratory history - occupation/ social is important
lung function tests
CT of chest
biopsy
treatment of bronchiolitis obliterans
protection from harmful chemicals antibiotics and steroids to ease inflammation immunosuppressants cough medicine bronchodilators oxygen
who makes up a respiratory specialist team?
respiratory physician career grade doctors doctors in training ward-based and outpatient nurses respiratory nurse specialists respiratory physiologists clinical scientists physios psychologists
kalydeco
ivacaftor
improves the transport of chloride ions through the channel by binding to the channels directly to induce a non-conventional mode of gating which increases the probability that channel is open
issues with Kalydeco
UK agencies estimated cost per QALY between £335,000 and £1,274,000 - way above the NICE threshold
when to seek genetic counselling?
when a genetic test is done
before and after presymptomatic testing
before and after diagnostic testing
when there is family history of a genetic condition
abnormal results from routine prenatal testing
amniocentesis identifying chromosomal defect
inherited disease present in close family member
multiple pregnancy losses
couple are both carriers of a genetic disorder
carrier of chromosomal abnormalities
member of certain ethnic groups
pregnancy involves blood relatives/ incest
older mother
mothers blood tests show increase risk of neural tube defects, downs or trisomy 18
baby/ parental exposure to harmful substances - radiation, infection, drugs and chemicals
older father
infertility
couples who need fertility treatments
what are the short-term effects of smoking?
bad breath fatigue decrease in energy reduction in taste and smell coughing SOB irritation of trachea and larynx wheezing
what are the long-term effects of smoking?
problems with heart and blood vessels reduced lung function swelling and narrowing of airways excessive mucus production build up of poisonous substances lung irritation and damage increased risk of lung infection wheezing asthma coughing COPD lung cancer emphysema
what factors affect drug administration?
the type of substance the drug is
pharmacokinetics
practical factors - unconscious/ breathless etc.
dosage
