Drugs and the Genome Flashcards Preview

Year 3: CSP & PH > Drugs and the Genome > Flashcards

Flashcards in Drugs and the Genome Deck (7)

What mode of inheritance is present in family hypercholesterolaemia?

Autosomal dominant - mutation in LDL receptor


What is the presentation of family hypercholesterolaemia?

Corneal arcus, xanthelasma


What is the treatment of familial hypercholesterolaemia?

PCSK9 inhibitors e.g. evolocumab, alirocumab, bococizumab


Describe the aetiology of cystic fibrosis

1 in 25 are carriers (mutation in CFTR gene), white Europeans generally


Describe the treatment of cystic fibrosis

combination of ivacaftor and lumacaftor (improves lung function, prevents channel degradation and improves channel function) in those 12 and above with the F508 mutation


What is a thiopurine methyl transferase (TPMT) test?

Tests for the enzyme which metabolises azathioprine and 6-mercaptopurine to predict whether someone will experience severe haematopoietic toxicity


What genetic mutations may alter the effects of warfarin?

• Those with group A VKORC1 polymorphisms achieve a therapeutic INR more rapidly, so may be at risk of bleeding
• CYP2C9 polymorphisms don’t influence the time to effective INR but they do shorten the time the INR is >4