Porphyria Flashcards Preview

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Flashcards in Porphyria Deck (8)
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1
Q

Congenital Erythropoietic Porphyria

A

Gunther’s disease, AR

Uroporphyrinogen synthetase III

2
Q

Porphyria Cutanea Tarda

A

AD
Uroporphyrinogen decarboxylase
Urine uro/copro
Stool isocopro

3
Q

Erythropoietic Protoporphyria

A

AD and AR Ferrochelatase

Gallstones, no porphyria in urine

4
Q

Variegate Porphyria

A
AD
Protoporphyrinogen oxidase
Skin like PCT, abd attacks like AIP
Urine and stool copro (less than hereditary)
626nm
5
Q

Hereditary Coproporphyria

A

AD
Coproporphyrinogen oxidase
Skin like PCT, abd attacks like AIP
Urine and stool copro (more than varegate)

6
Q

Acute intermittent porphyria

A

AD
Porphobillinogen deaminase
No skin changes

7
Q

Hepato-erythropoietic porphyria

A

AR

Uroporphyrinogen decarboxylase

8
Q

Pseudoporphyria

A

Lets Party Really Hard Twonight
Lasix, Retinoids, Pyridoxine, Hemodialysis, Thiazides, Tanning beds, NSAIDS (naprosyn)
Urine, blood, fecal porphyrins normal