chem path

Question 1

marker of chronic alcohol use

Answer 1

gamma GT

Question 2

acute intermittent porphyria

Answer 2

PBG deaminase deficiency
PC: abdo pain, seizures, psych, n+v, tachy, weakness
NO cutaneous manifestations
Dx: ALA + PBG in urine = port wine urine
Precipitants: alcohol, stress etc

Question 3

porphyria cutanea tarda

Answer 3

uroporphyrinogen decarboxylase deficiency
cutaneous sx
dx: urinary uro/coproporphyrins and high ferritin

Question 4

dequervains

Answer 4

hyperthyroidism - self limiting post viral goitre (painful)
low uptake technetium scan
tx: NSAIDs, beta blockers

Question 5

high uptake technetium svn + tx

Answer 5

graves, toxic adenoma, toxic multinodular goitre

tx: Bblockers, carbamazine/propylthiouracil

Question 6

thyroid neoplasia produces calcitonin

Answer 6

medullary (MEN2) - parafollicular cells

Question 7

most common thyroid neoplasia

Answer 7

papillary

Question 8

well differentiated thyroid cancer mets to tissues

Answer 8

follicular

Question 9

thyroid cancer mets to LNs

Answer 9

papillary

Question 10

rare fast growing thyroid ca in elderly

Answer 10

anaplstic

Question 11

conns

Answer 11

adrenal tumour causing hypertension and hyperaldosteronism –> high Na, low K
Ix: Aldosterone:renin ratio
Tx spironolactone

Question 12

Addisons

Answer 12

hypoadrenocorticalism - low aldosterone and low cortisol
high K, low Na, low glucose
postural hypotension
skin pigmentation
muscle weakness
lethargy, depression
Dx: synathen test
tx: hormone replacement

Question 13

cushings

Answer 13

dx: low/high dose dex

Question 14

salicylate OD tx

Answer 14

haemodialysis

Question 15

drug causing dilated pupils x2

Answer 15

ecstasy (agitation + vasopressin secretion)

TCA’s (drowsiness)

Question 16

creatinine clearance

Answer 16

([urine Cr] x urine vol/min) / [plasma Cr]

Question 17

GFR

Answer 17

urine conc x urine flow / plasma conc

Question 18

commonest cause of addisons worldwide

Answer 18

tb

Question 19

nelsons syndrome

Answer 19

rapid enlargement of a pre-existing ACTH-secreting pituitary adenoma that occurs after the removal of both adrenal glands because of the lack of the negative feedback of cortisol on the production of ACTH.

PC: muscle weakness and skin hyper pigmentation

Question 20

commonest enzyme deficiency in CAH

Answer 20

21-Hydroxylase Deficiency (aldosterone and cortisol both reduced, testosterone, 17-Hydroxyprogesterone and progesterone increased)

Question 21

seen in urine of CAH pt

Answer 21

Pregnanetriol

Question 22

cyp21 deficiency

Answer 22

21-hydroxylase deficiency = CAH

Question 23

Von Hippel-Lindau disease.

Answer 23

commonly develop cysts in the kidneys, pancreas, and genital tract. They are also at an increased risk of developing a type of kidney cancer called clear cell renal cell carcinoma and a type of pancreatic cancer called a pancreatic neuroendocrine tumor.

Question 24

gold standard for measuring GFR

Answer 24

inulin

Question 25

McArdle’s glycogen storage disease (type V)

Answer 25

myophosphorylse deficiency = muscle version of glycogen phosphorylase which breaks down glycogen to glucose-1-phosphate.
Cause muscle stiffness after exercise

Question 26

Fabry’s disease

Answer 26

X-linked disorder of glycolipid metabolism due to deficiency of Galactosidase A

Question 27

Recommended therapy used in an attack of acute intermittent porphyria,

Answer 27

Haem arginate

Question 28

Lesch-Nyhan Syndrome

Answer 28

juvenile gout

Question 29

Kallman’s syndrome

Answer 29

hypogonadotropic hypogonadism

Question 30

Waldenstrom’s macroglobulinaemia

Answer 30

B cell lymphoma causing raised IgM - elderly men

Question 31

alpha 1 antitrypsin

Answer 31

serine protease - inhibits neutrophil elastase breakdown of elastin in alveoli. Deficiency = emphysema (accumulation in liver)

Question 32

Crigler-Najjar syndrome

Answer 32

Autosomal recessive disorder affecting metabolism of bilirubin causing a non-haemolytic jaundice, resulting in raised unconjugated bilirubin and kernicterus. Consanguinity is a risk factor.