CF & PKU

Question 1

What are 4 symptoms of CF

Answer 1

thick mucus clogging pancreas and intestines
abdominal pain
liver disease
diabetes
inflammation of pancreas
gallstones

Question 2

what does inflammation in the lining or stomach cause (PKU)

Answer 2

pain in upper abdomen, oesophagus and throat
blood in vomit or stool
black, tarry stool

Question 3

relate enzymes to CF

Answer 3

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

Question 4

how are gallstones formed due to CF

Answer 4

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

Question 5

how many people with CF form liver disease

Answer 5

5-10%

Question 6

how does antibiotics negatively effect someone with CF

Answer 6

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

Question 7

how can a small bowel bacterial overgrowth be treated

Answer 7

antibiotic that helps tamp down bad bacteria to allow normal bacteria to regain control in the intestine

Question 8

what is the different between CF diet and PKU diet

Answer 8

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

Question 9

why does someone with CF need a high salt intake

Answer 9

to replace the salt you lose while sweating, due to people with CF having saltier sweat, causing electrolyte imbalance and dehydration

Question 10

what are people with CF more prone to

Answer 10

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

Question 11

what does inflammation cause in a CF patient

Answer 11

inflammation spurs the creation of more mucus, which can block the airways and allow infection to grow

Question 12

explain the inheritance pattern of CF and PKU patients

Answer 12

both are autosomal recessive patterns - this means that each parent must be a carrier of the mutated gene or have the condition themselves.

Question 13

everyone has two copies of the CFTR gene, explain what happens when one of the genes is mutated, and when two are mutated

Answer 13

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

Question 14

how many mutations of the CFTR gene is there

Answer 14

700

Question 15

what is the rate of occurrence in babies for CF

Answer 15

a CF baby is born every 4 days in Aus meaning one in 2500 babies are born with CF

Question 16

what is the past and present life expectancy for those with CF

Answer 16

present 38
past male 12.2
past female 14.8

children with CF - survival rate has increased 50% but mortality rate remained the same

Question 17

what are CF treatments focused upon

Answer 17

airway clearance, medicine to improve function of the faulty CFTR protein and prevent complications

Question 18

describe the sweat test

Answer 18

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

Question 19

what is the similarity between CF testing and PKU testing in newborns

Answer 19

both conditions are detected through a neonatal screening test known as the heel prick

Question 20

what is the CFTR

Answer 20

cystic fibrosis transmembrane conductance regulator

Question 21

what does the CFTR gene function as

Answer 21

a chloride channel, that helps maintain the proper balance of salt and water within a cell

Question 22

what does PKU change

Answer 22

the way that phenylalanine is broken down by the body in digestion

Question 23

what is the normal process of the breaking down of a protein with The

Answer 23

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.

Question 24

what is the difference in the breaking down of someone with PKU

Answer 24

they are unable to convert the to tyrosine, and tyrosine is needed to make the brain’s chemical messengers

Question 25

what food should you include and avoid in your diet if you have PKU

Answer 25

include fruits, veg, some grains, low phe food
avoid - dairy products, egg, fish, meat, nuts, beans

Question 26

what should newborns with PKU be fed

Answer 26

measured amounts of a special PKU formula containing all amino acids except phe are fed to newborns, then they are breastfed until satisfied

Question 27

what is the alteration in genes for someone with PKU

Answer 27

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

Question 28

what is the main treatment for PKU patients

Answer 28

low-protein diet