Path: Chempath

Question 1

Commonest porphyria and second commonest

Answer 1

1. porphyria cutanea tarda
2. acute intermittent porphyria

Question 2

What is an acquired cause of porphyria?

Answer 2

lead poisoning

Question 3

What are porphyria’s?

Answer 3

a group of (7) rare disorders in which defective enzymes impair the biosynthesis of heme in the liver +/- BM which causes a buildup of toxic haem precursors e.g. porphyrin

Question 4

How do we test for porphyria?

Answer 4

detect porphyrins in urine or serum

Question 5

What deficiency causes porphyria cutanea tarda?

Answer 5

uroporphyrinogen decarboxylase deficiency

Question 6

what happens in uroporphyrinogen decarboxylase deficiency?

Answer 6

PCT (porphyria cutanea tarda)

Question 7

What are the signs and symptoms of porphyria cutanea tarda?

Answer 7

chronic blistering cutaneous photosensitivity
facial hyperpigmentation
hypertrichosis
blistering
milia
scarring

tea coloured urine

exacerbated by EtOH

Question 8

Symptoms of acute intermittent porphyria

Answer 8

attacks of severe abdominal pain (life threatening)
N&V
tachycardia
neuropsychiatric abnormalities

Question 9

What is the formula for the anion gap?

Answer 9

Anion gap = (Na+ + K+) - (Cl- + HCO3-)

Question 10

What is the most common joint to be affected in acute gout?

Answer 10

1st metatarsophalangeal

Question 11

What type of diabetes insipidus is associated with lithium?

Answer 11

nephrogenic diabetes insipidus