Porphyrias

Question 1

other name for lead poisoning

Answer 1

porphyria

Question 2

• impaired production of porphyrin component of hem

- inherited or acquired disorders of heme synthesis

Answer 2

porphyria

Question 3

primary cause of porphyria

Answer 3

specific enzyme deficiency

Question 4

kinds of porphyrias

Answer 4

1. neurologic
2. cutaneous
3. erythropoietic

Question 5

symptoms of neurologic porphyrias

Answer 5

• abdominal pain
• psychotic behavior
• neuromuscular difficulties

Question 6

neurologic porphyrias

Answer 6

1. variegate porphyria (rare)
2. coproporphyria (rare)
3. acute intermittent porphyria

Question 7

other name of variegate porphyria

Answer 7

ferrochelatase deficiency

Question 8

enzyme defect of variegate porphyria

Answer 8

heme synthetase

Question 9

most common neurologic porphyria

Answer 9

acute intermittent porphyria

Question 10

a commonly acquired porphyria that reslts from a block in several of the heme biosynthetic enzymes

Answer 10

lead intoxication

Question 11

clinical symptoms of lead intoxication

Answer 11

• abdominal pain
• constipation
• neuropathy
• absence of skin photosensitivity ferrochelatase & coproporphyrinogen oxidase

Question 12

laboratory profile of lead intoxication

• ____ urinary ALA & corproporphyrin levels
• _____ RBCs w/ ______ due to increased erythropoiesis
• ___________ in neutrophils

Answer 12

• elevated
• hypochromic w/ basophilic stippling
• toxic granulations

Question 13

most severely affected enxyme in lead intoxication is

Answer 13

ala dehydrogenase

Question 14

are induced by the presence of excess porphyrins in the skin, which generates oxygen radicals that attack cells & produce photosensitivity & skin lesions

Answer 14

Cutaneous porphyrias

Question 15

types of cutaneous porphyrias

Answer 15

1. protoporphyria (some what rare)
2. porphyria cutanea tarda
3. congenital erythropoietic porphyria (rare)

Question 16

• most common cutaenous porphyria

- it appears in adults following lover disease or excessive alcohol intake

Answer 16

Porphyria cutanea tarda

Question 17

• is associated w. severe photosensitivity, scarring, excessive hair growth, deformity of the fingers & fingernails, reddish discoloration of the teeth & chronic hemolysis
• teeth & urine fluorescent under UV light
• WEREWOLF

Answer 17

congenital erythropoietic porphyria

Question 18

kinds of erythropoietic porphyrias

Answer 18

1. congenital erythropoietic porphyria
2. erythropoietic protoporphyria
3. X-linked erythropoietic protoporphyria