Flashcards in Porphyria Deck (8)
Loading flashcards...
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