Porphyria Flashcards
Congenital Erythropoietic Porphyria
Gunther’s disease, AR
Uroporphyrinogen synthetase III
Porphyria Cutanea Tarda
AD
Uroporphyrinogen decarboxylase
Urine uro/copro
Stool isocopro
Erythropoietic Protoporphyria
AD and AR Ferrochelatase
Gallstones, no porphyria in urine
Variegate Porphyria
AD Protoporphyrinogen oxidase Skin like PCT, abd attacks like AIP Urine and stool copro (less than hereditary) 626nm
Hereditary Coproporphyria
AD
Coproporphyrinogen oxidase
Skin like PCT, abd attacks like AIP
Urine and stool copro (more than varegate)
Acute intermittent porphyria
AD
Porphobillinogen deaminase
No skin changes
Hepato-erythropoietic porphyria
AR
Uroporphyrinogen decarboxylase
Pseudoporphyria
Lets Party Really Hard Twonight
Lasix, Retinoids, Pyridoxine, Hemodialysis, Thiazides, Tanning beds, NSAIDS (naprosyn)
Urine, blood, fecal porphyrins normal