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Porphyrias > Porphyrias > Flashcards

Porphyrias Flashcards

1
Q

Commonest porphyria?

A

Porphyria cutanea tarda

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2
Q

Rare porphyria

A

Variegate prophyria

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3
Q

Who does porphyria cutanea tarda affect?

A

Alcoholics

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4
Q

What is the enzyme involved in porphyria cutanea tarda?

A

Uroporphyrinogen decarboxylase

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5
Q

Presentation of PCT

A 
blisters
fragile skin
hyperpigmentation 
hypertrichosis
morphea
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6
Q

Management of PCT

A 
Treat underling cause
Alcoholics
Hep C
Haemochromotosis 
Oestrogen
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7
Q

What porphyria do children get?

A

Erthropoietic protoporphyria

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8
Q

What enzyme is responsible for Erthropoietic protoporphyria?

A

Ferrochelatase

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9
Q

Clinical signs of erthropoietic protoporphyria?

A

Painful, burning sensation after sun exposure
Tops of hands, feet, face and ears
Skin is red, swollen and blsitered

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10
Q

What other disease can manifest from erthropoietic protoporphyria?

A

liver disease: jaundice and gallstones

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11
Q

Management of erthropoietic protoporphyria?

A

Biannual LFTs and RBC porphyrins
Visible light protection - dark clothing, full sleeved, tinted windows, sunscreen and avoid midday sun
Treat the liver disease

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12
Q

Enzyme deficient in Acute Intermittent Porphyria

A

porphobilinogen deaminase

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13
Q

Uroporphyrinogen decarboxylase is the enzyme deficient in…

A

Porphyria cutanea tarda

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14
Q

Ferrochelatase is the enzyme deficient in…

A

Erthropoietic protoporphyria

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15
Q

PCT affects what group of people?

A

alcoholics

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Porphyrias (1 decks)

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