Polyphryias

Question 1

SPT1

Answer 1

only burns

Question 2

SPT2

Answer 2

burns but tans after

Question 3

SPT3

Answer 3

mostly tans, can burn

Question 4

SPT4

Answer 4

tans easily and hard to burn

Question 5

SPT5

Answer 5

brown skin

Question 6

SPT6

Answer 6

black/near black skin

Question 7

describe the pathology of cutaneous photosensitivity

Answer 7

photon penetrates skin and absorbed by chemical, causing mediator release, inflammatory response and skin damage

Question 8

where would you see burning features suggestive of abnormal cutaneous photosensitivity

Answer 8

eyelids, retroauricular

Question 9

in PCT what enzyme in the polyphyria metabolism pathway is dysfunctional

Answer 9

uroporphyrinogen decarboxylase

Question 10

in erythropoietic photoporyphyria what enzyme in the polyphyria metabolism pathway is dysfunctional

Answer 10

ferrochelatase

Question 11

what differential should acute intermittent porphyria be kept under

Answer 11

acute abdo
psychoses
guillian barre syndrome

Question 12

explain how acute intermittent porphyria causes acute abdominal pain

Answer 12

drug requirijng cytochrome degredation is given to patient
porphyria pathway activated but enzyme deficient so cytochrome cannot be made
toxic metabolites build uo and cause GI nerve damage causing acute abdomen

Question 13

true/false - acute intermittent porphyria causes skin damage

Answer 13

false