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36 Cards in this Set
- Front
- Back
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Inheritance and gene defect in PCT. |
AD
Uroporphyrinogen Decarboxylase |
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More common form of PCT.
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Sporadic/acquired
only 20% uroporphyirnogen decarboxylase |
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Pathogenesis of PCT.
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Increased uroporphyrn in skin leads to photosensinziation after absorbing light in soret band.
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Soret Band
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400-410
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Skin findings of PCT
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DT photosensitivity - bullae, erosions,
hypertrichosis of face hyperpigmentation Later: milia, sclerodermoid changes |
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GI and endocrine findings of PCT.
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HCC; hemosiderosis
DM |
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Which has coral pink fluroscense with wood's light?
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PCT
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Tx of PCT.
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Phlebotomy
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How do differentiate PCT from VP
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R/O Sz hx
CHeck ratio of URO to COPRO in urine PCT - 8:1 VP 1:1 or copro > uro |
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Name inheritance and gene of Variegate Porphyria
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AD
protoporphyrinogen oxidase |
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T/F VP has similar cutaneous findings as PCT.
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True
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What precipitates acute attacks in VP?
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Drugs, infection, fever, alcohol, pres
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What characterizes an acute attack in VP?
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abdominal pain, n,v
neuropathy with pain, confusion Tachy, HTN |
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Which has a plasma spectrum fluorescence that is diagnostic?
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VP
626nm |
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24hour urine in VP.
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Corpro = or > uroporphyrin
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VP has elevated what levels?
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fecal; proto>copro
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AIP inheritance and gene
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AD
Porphobilinogen deaminase |
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Acute attacks of AIP
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Peripheral neuropathy with pain, paralysis
colicky abdomina pain, vomiting tachy and hypertension hyponatremia |
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Urine finding in AIP
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dark port wine colore urine
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In AIP what is increased in acute attacks?
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ALA synthetase
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Inheritence and gene defect of hereditary coproporphyria
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AD;
Coroporphyrinogen oxidase |
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Skin findings in HCP and % of pts with skin findings
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S2 PCT and VP delayed photosensitivity
30% |
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T/F HCP has similar CNS and GI findings as AIP and VP
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True
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How do you differentiate HCP from AIP?
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Using the PBG assaya
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Stool findings for HCP v. VP
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VP: Proto
HCP: Copro |
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Inheritance and gene defect for EPP.
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AD
Ferrochetalase |
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Which is the m/c erthropoietic porphyria?
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EPP
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How does EPP present?
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burning stinging erythematous plaques that are photodistributed during or after UV light; rare bullae
Then waxy thickened scarring |
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Other organ systems involved in EPP?
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Cholelithiasis; liver dz
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Lab findings in EPP
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Stool and RBC Proto
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CEP inheritance and Gene defect.
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AR
uroporphyrinogen III synthase gene |
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Skin findings in CEP
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immediated photosensitivity later with mutilating scars, sclerodermoid
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Hair and teeth changes
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hypertrichosis with lanugo hairs
red brown staining |
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Blood findings in CEP
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hemolytic anemia
splenomegaly |
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Inheritance and gene defect in HEP
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AD;
uroporphyriunogen decarboxylase |
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RBC finding in HEP
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PROTO
in EP URO |
