CF & PKU Flashcards
What are 4 symptoms of CF
thick mucus clogging pancreas and intestines
abdominal pain
liver disease
diabetes
inflammation of pancreas
gallstones
what does inflammation in the lining or stomach cause (PKU)
pain in upper abdomen, oesophagus and throat
blood in vomit or stool
black, tarry stool
relate enzymes to CF
about 90% of people with CF will produce a sticky mucus. this blocks the ducts in the pancreas and prevents enzymes from reaching the small intestine to break down food for absorption. this undigested food in the intestines can cause pain, cramping, gas and either loose, greasy stool or constipation
how are gallstones formed due to CF
people with CF can form bile which os very thick and flows very slowly, it can get so thick that it will form stones in the gallbladder
how many people with CF form liver disease
5-10%
how does antibiotics negatively effect someone with CF
with constant courses of antibiotics for CF patients some patients will form a small bowel bacteria overgrowth. this is because the antibiotics can also kills good bacteria which can cause bad bacteria to overgrow in the intestine and create gas, diarrhoea, nausea and bloating
how can a small bowel bacterial overgrowth be treated
antibiotic that helps tamp down bad bacteria to allow normal bacteria to regain control in the intestine
what is the different between CF diet and PKU diet
in a CF diet you are required to have a high protein intake although with PKU it is required for you to eat as little protein as possible
why does someone with CF need a high salt intake
to replace the salt you lose while sweating, due to people with CF having saltier sweat, causing electrolyte imbalance and dehydration
what are people with CF more prone to
lung infections post viral infections due to interactions between their immune systems and inflammation.
they are also prone to infections because the blocking of the airways traps germs
decreased ability to absorb nutrients of food due to proteins needed for digestion being blocked from reaching the enzyme
what does inflammation cause in a CF patient
inflammation spurs the creation of more mucus, which can block the airways and allow infection to grow
explain the inheritance pattern of CF and PKU patients
both are autosomal recessive patterns - this means that each parent must be a carrier of the mutated gene or have the condition themselves.
everyone has two copies of the CFTR gene, explain what happens when one of the genes is mutated, and when two are mutated
if one of the genes you inherit are mutated, you will be a carrier of CF, although if you inherit two of the mutated genes you will have CF
how many mutations of the CFTR gene is there
700
what is the rate of occurrence in babies for CF
a CF baby is born every 4 days in Aus meaning one in 2500 babies are born with CF
what is the past and present life expectancy for those with CF
present 38
past male 12.2
past female 14.8
children with CF - survival rate has increased 50% but mortality rate remained the same
what are CF treatments focused upon
airway clearance, medicine to improve function of the faulty CFTR protein and prevent complications
describe the sweat test
sweat tests occur if you show symptoms of CF or have a positive newborn screen
it measures the amount of chloride in your sweat
1. pilocarpine and a little electrical stimulation is applied to a small area of the arm or leg to encourage sweat glands to produce sweat
2. sweat is collected on a piece of filter paper or gauze or in a plastic coil
3. sweat collected is sent to a hospital lab to measure the chloride concentration
4. if a child has received a result of high chloride this will confirm the CF diagnosis
what is the similarity between CF testing and PKU testing in newborns
both conditions are detected through a neonatal screening test known as the heel prick
what is the CFTR
cystic fibrosis transmembrane conductance regulator
what does the CFTR gene function as
a chloride channel, that helps maintain the proper balance of salt and water within a cell
what does PKU change
the way that phenylalanine is broken down by the body in digestion
what is the normal process of the breaking down of a protein with The
the protein is broken down into the amino acid phenylalanine which is aided by PAH (phenylalanine hydroxylase) with the help of the cofactor BH4. the phe is converted into tyrosine.
what is the difference in the breaking down of someone with PKU
they are unable to convert the to tyrosine, and tyrosine is needed to make the brain’s chemical messengers
what food should you include and avoid in your diet if you have PKU
include fruits, veg, some grains, low phe food
avoid - dairy products, egg, fish, meat, nuts, beans
what should newborns with PKU be fed
measured amounts of a special PKU formula containing all amino acids except phe are fed to newborns, then they are breastfed until satisfied
what is the alteration in genes for someone with PKU
people with PKU have an alteration or mutation in their PAH gene, which is responsible for providing the body with instructions for producing an enzyme called phenylalanine hydroxylase. without this enzyme, phenylalanine cannot be broken down in the digestive system, meaning the dietary sources of the protein an become toxic, with it building up within the body and causing brain damage
what is the main treatment for PKU patients
low-protein diet
