porphyria

Question 1

acute intermittent porphyria enzyme

Answer 1

hydroxymethylbilane synthase deficiency

Question 2

AIP inheritence

Answer 2

autosomal dominant

Question 3

AIP symptoms

Answer 3

abdo pain, seizures, psych disturbance (parkinsonian ect), nausia, vomiting, tachy, HTN, musckle weakness, constipation, urinary incontinence
Not cutaneous

Question 4

AIP diagnosis

Answer 4

aminolevulinic acid and porphobillogen in urine

Question 5

AIP triggers

Answer 5

steroids, ethanol, barbituates, NSAID

Question 6

AIP treatment

Answer 6

avoid triggers, analgesia, IV haem arginate, IV carbohydrate

Question 7

hereditary coproporphyria enzyme

Answer 7

coproporphyrinogen oxidase deficiency

Question 8

HCP inheritence

Answer 8

AD

Question 9

HCP symptoms

Answer 9

neurovisceral + skin

Question 10

Variegate porphyria symptoms

Answer 10

neruovisceral + skin

Question 11

congential erythopoietic porphyria symptoms

Answer 11

skin

Question 12

Erythropoietic protoporphyria symptoms

Answer 12

photosensitivity, burning, itching, oedema - following sun exposure (no blistering)

Question 13

EPP affects

Answer 13

children

Question 14

porphyria cutanea tarda inheritence

Answer 14

AD

Question 15

PCT enzyme

Answer 15

Uroporphyrinogen dexarboxylase deficiency

Question 16

PCT symptoms

Answer 16

vesicles - crusting pigmented superficial scarring - on sun exposed sites

Question 17

PCT diagnosis

Answer 17

increased urinary uroporphyrins and copropryphrins and feritin

Question 18

PCT treatment

Answer 18

avoid precipitants, plebotomy

Question 19

EEP enzyme

Answer 19

ferrochetalase