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26 Cards in this Set
- Front
- Back
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Autosomal Dominant Porphyrias?
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AIP, VP, Hereditary coproporphyria
-all the rest are AR |
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Acute porphyrias involving skin?
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Hereditary coprophyria, Variegate Coprophyria
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No skin findings?
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ALA dehyratase deficiency and AIP
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Most common childhood pophyria?
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EPP
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M/C acute porphyria?
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AIP
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Erythroid porphyrias
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CEP and EPP
The ones with "E's" Think fast, young age and lipid soluble |
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Acute pophyrias?
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All Happen Very Acutely
AIP Hereditary copro Variegate ALA dehydratase deficiency |
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The only porphyria with an acquired type?
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PCT
-type I is acqd. PCT is m/c worldwide. -assoc. with ETOH, estrogen -assoc. with Hep C Stool;URO and ISOCPRO -8:1 URO:COPR in Urine -urine coral-red fluorescence |
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Enzyme defect in AIP?
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PGB deaminase
-located in cytosol -AD -3rd to 4th decade onset -?hyponatremia -?assoc. with chronic fatigue syndrome |
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Gene defect in CEP (Gunther's)
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UPS (uroprophyrinogen synthetase)
-located in cytosol -AR inheritance -child with red teeth -increased uro in rbc's, plasma and urine -increased copro in stool |
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Prophyria with burning in childhood, AR?
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EPP, ferrochelatase (in mitochondria) deficiency
-minimal to no blistering -RBC:Proto-transient fluorescence as opposed to Gunthers which is stable -gallstones -waxy,thickened scars |
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Gene in variegat porphyria? Location?
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Protoporphyrin Oxidase (mitochondria)
-626 nm fluorescence -urine 1:1 copro: uro -Arinary ALA and PGB increased during attacks |
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Order from top to bottom of porphyrias excluding first A?
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ACPHVE
All Congenital Porphyrias Have Variable Expression |
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Gene in hereditary coproporphyria? location?
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Copro oxidase
(mitochondria) -AD -3rd to 4th decade |
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Port wine urine?
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AIP
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Stool VP
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Proto
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Stool HCP
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Copro
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Rare, has same urogen decarboxylase gene defect as compared to PCT?
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HEP, AD
"Hepatoeryropoietic porphyria" -presentation: usually one yo |
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Newborn with red teeth and urine?
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Congenital Erythropoetic prophyria (Gunthers)
-Uroporphyrinogen III synthase -AR |
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Toddler with pain when going out into sun, consider what porphyria?
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EPP
Ferrochelatase deficiency (2nd rate limiting step) |
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PCT inheritance?
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80% sporadic
20% AD -uroporphyrinogen decarboxylase deficiency -iron overload -can be triggered by alcohol, hep C, HIV |
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PMLE occurs most often in the spring, how many days after sun exposure? Treatment?
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PMLE 1-4 days after sun exposure
Treatment with hardenine, Phototherapy is better than antimalarials |
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Treatment to consider for actinic prurigo?
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Thalidomide.
Hardening is not an option Cheilitis can be only initial sign Conjuncitvitis 10-20% Improves or resolves in 5 years in 60% of patients with onset before 20 yo |
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Onset of solar urticaria?
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Seconds to minutes after UVA exposure
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Photosensitivity to UVB and UVA and visble light along with CD8 predominance differentiates chronic actinic dermatitis from drug-induced photosensitivity. What patch test positivity is associated with CAD?
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sequiterpene lactone contact sensitivy from compositae in up to 85% of cases in Europe
-Lowered MED |
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A subset of children and les commonly adults with hydroa vaccinforme will have latent infection with what?
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EBV
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