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