porphyria

Question 1

• Urine ALA, PBG

* None in rbc and stool

Answer 1

– AIP

Question 2

– CEP versus HEP

Answer 2

• Uro in RBCs of CEP

* Proto in RBCs of HEP

Question 3

– VP versus PCT

Answer 3

• Copro > or = Uro in urine in VP

Question 4

• Copro in Urine, rbcs and stool

Answer 4

– HCP

Question 5

• Uro in Urine

* Proto in rbc and Copro in stool

Answer 5

– HEP

Question 6

• None in urine
• Proto in rbc and stool
• Rbcs transiently fluoresce

Answer 6

– EPP

Question 7

• Urine– URO
• Uro rbc and Copro stool
• Rbcs and teeth fluoresce

Answer 7

– CEP

Question 8

• Urine
– Uro < or = Copro
– None in rbc and Proto in stool
– Plasma fluoresces at 626 nm diagnostic

Answer 8

– VP

Question 9

• Urine fluoresces
– Uro > Corpo (3:1 or greater)
• None in rbc and Isocopro in stool

Answer 9

– PCT

Question 10

• Gunther’s
• Red urine soon after birth
• Red teeth
• Hypertrichosis (werewolf appearance)
• Extreme photosensitivity

Answer 10

– CEP

Question 11

only oxidized porphyrin

Answer 11

• Protoporphyrin IX

Question 12

• Porphyrins deposited in liver

* Beta carotene may help

Answer 12

– EPP

Question 13

– EPP
• Immediate burning on sun exposure
?? sunlight can trigger

Answer 13

• Protoporphyrin IX absorbs at 400-410 nm and 500-600 nm

Question 14

– ALA dehydrase deficiency
– Acute intermittent porphyria (AIP)
– Hepatic coproporphyria (HC)
– Variegate Porphyria (VP)

Answer 14

Porphyrias

• Acute

Question 15

1 type Porphyrias

Answer 15

– PCT

Question 16

• Soret band

Answer 16

400-410 nm

Question 17

• Sun-exposed bullae and scarring
• Hypertrichosis
• Sclerodermoid changes

Answer 17

PCT

Question 18

– Sunscreens do little in PCT as

Answer 18

Soret Band out of reach

Question 19

• Avoid ETOH, inciting meds

* Phlebotomy, antimalarials, treat HCV

Answer 19

PCT treatment

Question 20

• Homozygous form of PCT
• Like CEP clinically but milder
• Dark, red urine at birth
• Scarring and red teeth
• Sun avoidance

Answer 20

– HEP

Question 21

• PCT skin finding and AIP systemic disease
• South Africans
• Triggers and treatment similar to AIP

Answer 21

– VP

Question 22

• AD

Answer 22

– VP

Question 23

• Similar to AIP and VP

Answer 23

– HCP

Question 24

• #2 most common

Answer 24

– AIP

Question 25

* Periodic GI attacks and psychiatric disturbance | * NO skin lesions

Answer 25

– AIP

Question 26

—Phenobarb, estrogen, griseo and sulfa

Answer 26

• Attacks Meds– AIP

Question 27

– Infection, pregnancy, starvation, fever, menses

Answer 27

• Attacks – AIP

Question 28

•Attacks – AIP- Do Watson-Schwartz test for

Answer 28

porphobilinogen in urine

Question 29

– Avoid triggers – Hematin and glucose for attacks – Pain control

Answer 29

• Treatment AIP