ChemPath Flashcards
(421 cards)
What is the syndrome where there is a complete absence of HPRT (yperxanthine guanine phosphoribosyl transferase?
Lesch Nyhan Syndrome
- X linked
- Developmental delay at 6 months
- Hyperuricaemia, choreiform movement, spasticity
The inheritance pattern of familial hypercholesterolaemia is: A. Autosomal recessive B. X linked C. Autosomal dominant D. Mitochondrial
C. Autosomal dominant
Phenylketonuria is an deficiency of which enzyme?
Phenylalanine hydroxylase
-There is a build up of toxic phenylalanine
How do you treat galactosaemia?
Avoid milk
What is used as a tumour marker to monitor medullary carcinoma of the thyroid?
Carcinoembryonic antigen (CEA)
In primary hyperthyroidism what biochemistry would you see?
High T3/T4 and low TSH
What is used as a tumour marker to monitor papillary and follicular thyroid cancer?
Thyroglobulin
What is Schmidt’s syndrome?
Addison’s disease + hypothyroidism
What is the gold standard test to diagnose Cushing's disease? A. Low dose dexamethasone test B. High dose dexamethasone test C. Sampling from the pituitary (IPSS) D. Short SynACTHen test
C. IPSS
In a pituitary function triple test which of the following are administered: A. GHRH B. TRH C. Glucose D. Insulin E. ACTH
A, B and D
Which tests are used to diagnose acromegaly? A. Short synacthen test B. Plasma cortisol levels C. IGF levels D. Glucose tolerance test E. Urine cortisol levels
C and D can both be used
Name an endogenous marker of GFR?
Serum creatinine
A clinical alternative is Cystatin C
What features must an endogenous marker of GFR have? A. Not plasma bound B. Small C. Freely filtered by glomerulus D. Neutral charge E. Not modified by the tubules
A, C and E
What is the gold standard measure of GFR?
Inulin
How is more likely to have a higher serum creatinine level? A. An old man B. A women C. Caucasian D. Body builder
D. body builder
Muscularity increases serum creatinine
Women and older people have lower levels
Black ethnicity have higher levels
Name three drugs that would predispose to pre renal AKI?
NSAIDs, diuretics, calcineurin inhibitors, ACEi or ARBs
Which of the following is not a cause of pre-renal AKI? A. True volume depletion B. Hypertension C. Oedematous state D. Selective renal ischaemia E. Drugs affecting the glomerular flow
B.
Name 3 causes of Chronic kidney disease?
Diabetes, Hypertension, polycystic kidney disease, chronic glomerulonephritis, Atherosclerotic kidney disease
What is the main electrolyte imbalance you will see in chronic kidney disease? A. Hypernatraeia B. Hyperkalamia C. Hyponatraemia D. Hypernatraemia
B. Hyperkalaemia
What ECG changes might you see with in a patient with severe hyperkalaemia?
Peaked T waves, loss of P waves, widened QRS. Eventually VF
How do you calculate osmolality?
2(Na + K) + urea + glucose
How do you calculate the anion gap?
Na + K - Chloride - bicarb
If the anion gap goes up you know there are toxins in the blood e.g. ketones
Which of the following would you NOT see a raised ALP? A. Paget's disease B. Pregnancy C. Hepatitis D. Osteoporosis E. Osteomalacia
D. Osteoporosis - the biochemistry is unchanged
What is the enzyme marker for acute pancreatitis?
Amylase