Dx and Tx regulations

Question 1

Dx MFS

Answer 1

Ghent criteria

Question 2

Dx Gaucher dis

Answer 2

• Homozygotes are found by looking for glucocerebrosidase activity in blood smears
• heterozygotes are found with genetic analysis.

Question 3

Gaucher dis Tx

Answer 3

Replacement with enzymes

Question 4

Tx FH

Answer 4

drugs to lower plasma cholesterol by increasing LDL receptors
• Statins inhib HMG CoA reductase → eventually more LDL receptor synth bc a lowered prod of cholest

Question 5

Tx MFS

Answer 5

• β blockers to reduce heart rate and aortic wall stress.
• Potentially blocking TGF-β (but cant do this for life)
• Potentially blocking angiotensin type 2 receptors

Question 6

Tx LSD

Answer 6

• Enzyme replacement therapy.
• Substrate reduction therapy – tries to reduce the substrate level so that the few ok enzymes can handle the rest
• Molecular chaperone therapy: Exogenous competitive inhibitors are able to bind to the defective protein and help it from unfolding/misfolding by providing a folding template.