patient exam Flashcards
cystic fibrosis
multi system disease
mutation in CFTR gene - 1800mutations, 13 disease causing
autosomal recessive
dysfunctional Na transport
diagnosis
prescence of 2 CFTR mutations
+ve sweat test >60mmol/L
clinical features - history important
median survival with CF
40yrs
newborn now with CF is >50yrs
management
AB - Port-A-Cath/IVAD need lung line 5-6hours a day of airway clearance nocturnal NIV Recombinant DNase/inhaled mannitol hypertonic saline macrolides (azithromycin) ivacafter (G551Dm 5%) lung transplant high calorie diet enteral tube feeding - burn a lot of calories in breathing - nutritional deficiencies fat sol vitamins A E K D
other conditions with CF
diabetes - secretions in pancreas - pancreas deficiency
gastro-oesophageal reflux disease - damage worse than an infection
distal intestinal obstructive syndrome - problem with absorbtion impacts gut
osteoporosis
chronic rhinosinusitis - constant drib impact lung health
subfertility - problem with ciliary compliance
psychosocial - ask them to do a lot of work for the management
who needs a transplant
end stage resp disease - not improving on maximum med
life expectancy <3yrs
lots of pulmolnry infections -need IV AB regularly
FEV1 <30% of predicted value
increasing frequency of pulmonary exacerbrations
reecurrant/refractory pneumothorces
recurrent hemoptysis despite bronchial artery embolization
who is transplantable
no renel/heart/liver disease no osteoporosis BMI >17 <30 no untreatable psychiatric condition no history of cancer in 5yrs reliable social support good adherence to med and appointments - see dr twice every week - only 5 centres - got to travel well enough to go through the 8 hour surgery and ICU recovery for 1 month
biggest reason for transplant
COPD
other transplantable conditions
COPD interstoitial lung disease CF bronchiectasis idiopathic pul hypertension
life post transplant
infection - immunosuppression - viral/bacterial/fungal
rejection - cellular (acute), Ab mediated - chronic
diet like in pregnancy
travel limitations
frequent appointments and admissions for AB steroids bronchoscopy and biopsy
meds and side effects eg kidney damage
1yr mortality = 10%
CF impact on life
no appetite - feel sick, eating makes the breathlessness worse
couldn’t work full time - work at home - eventually just focus on health
rely on support network
anxiety - know how it ends
depressed
life after transplant
sleep at night - not exhausted
cen get on with life
invisible illness
mental health worse than wiyth CF - exchange for a problem that you dont know
things go wrong despite doing your best - cant plan for the future - emotional toll increased
60-90 tablets a day
have to fit diet in - restrictive
difficult to navigate time changes when travelling because meds have to be given at a specific time
survivor’s guilt, see other people die - not knowing, waiting for someone to die so that you can live
so much unknpow after rejection - scary
