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pharmacogenomics 4860 > Other Susceptibilities (Final Exam) > Flashcards

Other Susceptibilities (Final Exam) Flashcards

1
Q

this drug is used for treatment of cystic fibrosis (CF) with a mutation in the CFTR gene. It is NOT effective in patients with CFTR p. F508del
mutation/clinical utility: CFTR

A

Ivacaftor (KALYDECO)

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2
Q

these two drugs are used for the treatment of cystic fibrosis (CF) with the CFTR p.F508del mutation
mutation/clincal utility: CFTR

A

Ivacaftor + Lumacaftor (ORKAMBI)
& Ivacaftor + Tezacaftor (SYMDEKO)

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3
Q

this drug is used for the treatment of cystic fibrosis with at least one CFTR p.F508del mutation or a mutation in CFTR that is responsive based on in vitro data
mutation/clinical utility: CFTR

A

Ivacaftor + Tezacaftor + Elexacaftor (TRIKAFTA)

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4
Q

this drug is used to treat rheumatoid arthritis, preventing renal transplant rejection, chron’s disease and colitis.
mutation/clinical utility: TPMT/NUDT15

A

Azathioprine (IMURAN)

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5
Q

true or false: reducing dosing levels of Azathioprine (IMURAN) due to the presence of TPMT & NUDT15 variants does reduce the therapeutic efficacy

A

false - it does NOT reduce the therapeutic efficacy

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6
Q

these variants of TPMT have greatly reduced TPMT activity

A

2/3A/*3C

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7
Q

these variants of NUDT15 are poor metabolizers

A

2/3

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8
Q

these variants of NUDT15 are intermediate metabolizers

A

4/5/*6

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9
Q

this drug is used for the treatment of rheumatoid arthritis, osteoarthritis, ankylosing spondylitis and the management of acute pain.
mutation/clinical utility: CYP2C9

A

celecoxib (CELEBREX)t

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10
Q

this drug is used for the treatment of choric gout refractory to conventional therapy. it is contraindicated in individuals with glucose-6-phosphate dehydrogenase deficiency as they are at higher risk of hemolysis
mutation/clinical utility: G6PD

A

pegloticase (KRYSTEXXA)

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11
Q

this drug is used to treat deficiency of interleukin-1 receptor antagonist (DIRA)
mutation/clinical utility: IL1RN

A

anakinra (KINARET)

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12
Q

this drug is used for the treatment of pseudobulbar affect (PBA)
mutation/clinical activity: CYP2D6

A

dextromethorphan/quinidine (NUEDEXTA)

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13
Q

this drug is used for treatment of molybdenum cofactor deficiency (MoCD) type A
mutation/clinical utility: MOCS1 (A/B)

A

Fosdenopterin (NULIBRY)

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14
Q

this drug is used for the treatment of relapsing forms of multiple sclerosis (MS)
mutation/clinical utility: CYP2C9 (PM’s at increased risk of drug plasma conc)

A

Siponimod (MAYZENT)
M in “multiple” and brand name starts with M
S in “sclerosis” and generic name starts with S

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15
Q

this drug is used to treat cataplexy and excessive daytime sleepiness (EDS) associated with narcolepsy
mutation/clinical utility: ALDH5A1

A

Sodium Oxybate (XYREM)

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16
Q

these two drugs are used to treat various seizure types
mutation/clinical utility: HLA-B*15:02

A

Carbamazepine (TEGRETOL) & Phenytoin (DILANTIN)

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17
Q

this drug is used to treat various seizure types
mutation/clinical utility: POLG

A

valproic acid (DEPAKENE)

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18
Q

this drug is used to treat seizures associated with CDKL5 deficiency disorder (CDD)
mutation/clinical utility: CDKL5

A

Ganaxolone (ZTALMY)

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19
Q

this drug is used to treat Alzheimers disease with a known amyloid beta pathology
mutation/clinical utility: APOE

A

Lecanemab (LEQEMBI)

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20
Q

individuals with Apolipoprotein E ______ have increased risk for amyloid related imaging abnormalities (ARIA)

A

E4/E4

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21
Q

this drug is used to treat Lambert-Eaton myasthenic syndrome (LEMS)
mutation/clinical utility: NAT2

A

Amifampridine (RUZURGI)

22
Q

this drug is used to treat Duchenne Muscular Dystrophy (DMD) with a DMD gene mutation amendable to exon 45 skipping
mutation/clinical utility: DMD

A

Casimersen (AMONDYS 45)

23
Q

this drug is used to treat Duchenne Muscular Dystrophy (DMD) with a DMD gene mutation that is amendable to exon 51 skipping
mutation/clinical utility: DMD

A

Eteplirsen (EXONDYS 51)

24
Q

this drug is used to treat Duchenne Muscular Dystrophy (DMD) with a DMD gene mutation that would benefit from exon 53 skipping
mutation/clinical utility: DMD

A

Golodirsen (VYONDYS 53) & Viltolarsen (VILTEPSO)

25
Q

this drug is used to treat spinal muscular atrophy (SMA)
mutation/clinical utility: SMN1/SMN2

A

Risdiplam (EVRYSDI)

26
Q

this drug is used to treat hyperkinetic movement disorders like chorea in Huntingtons disease, Tourette syndrome and tar dive dyskinesia
mutation/clinical utility: CYP2D6

A

Tetrabenazine (XENAZINE)

27
Q

this drug is used to treat amyotrophic lateral sclerosis (ALS) with a mutation in the superoxide dismutase 1 (SOD1) gene
*last exon rule (RNA mediated decay)
mutation/clinical utility: SOD1

A

Tofersen (QALSODY)

28
Q

this drug is a local anaesthetic used in a wide variety of superficial and invasive procedures. individuals with glucose-6-phosphate dehydrogenase deficiency are at higher risks of treatment induced methemoglobinemia
mutation/clinical utility: G6PD

A

Bupivacaine (MARCAINE)

29
Q

these three drugs are used for induction and maintenance of anesthesia. individuals with mutations in ryanodine receptor (RyR1;RYR1) and dihydropyridine receptor (DHPR;CACNA1S) are at a greater risk of developing malignant hyperthermia
mutation/clinical utility: RYR1/CACNA1S

A

Desflurane, Isoflurane & Sevoflurane

30
Q

this drug is used for induction of anesthesia during intubation and promote skeletal muscle relaxation during surgery or mechanical ventilation
mutation/clinical utility: BCHE

A

Mivacurium Chloride (MIVACRON)

31
Q

this drug is used in adjunct for tracheal intubation or mechanical ventilation
mutation/clinical utility: BCHE

A

Succinylcholine (QUELICIN)

32
Q

these two drugs are used to treat moderate to severe pain
mutation/clinical utility: CYP2D6

A

Codeine sulfate (CODEINE) & tramadol (ULTRAM)

33
Q

this is used for treatment of osteoarthritis and rheumatoid arthritis
mutation/clinical utility: CYP2C9

A

Meloxicam (QMIIZ ODT)

34
Q

this drug is used to treat HIV
mutation/clinical utility: HLA-B*57:01 <- presence of this can increase the risk of s/e

A

Abacavir (ZIAGEN)

35
Q

this drug is used to treat HIV
mutation/clinical utility: CYP 2B6

A

Efavirenz (SUSTIVA)

36
Q

these two drugs are used to treat malaria
individuals with glucose-6-phospjate dehydrogenase (G76PD) deficiency are at higher risk of hemolytic anemia
mutation/clinical utility: G6PD

A

Tefenoquine (ARAKODA) and Primaquine Phosphate
* treats malaria therefore ends in “Quine”

37
Q

this drug is used for treatment of wound sepsis in patients with second and third degree burns. individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency are at higher risks of hemolytic anemia.
mutation/clinical utility: G6PD

A

sulfadiazine (SALVADENE)
* treats sepsis that starts with S therefore generic and brand name also start with S *

38
Q

this drug treats invasive aspergillosis, deep tissue Candida infections, esophageal candidiasis and serious fungal infection.
mutation/clinical utility: CYP2C19

A

Voriconazole (VFEND)

39
Q

these four drugs are used to treat type two DM. individuals with glucose-6-phosphate dehydrogenase are at a higher risk of hemolytic anemia
mutation/clinical utility: G6PD

A

Chlorpropamide, Glimepiride, Gilbenclamide & Tolbutamide
* all end in ide *

40
Q

this drug is used for treatment of complications of leptin deficiency in patients with congenital acquired generalized lipodystrophy
mutation/clinical utility: LEP

A

metraleptin (MYALEPT)
* treats “leptin” and “leptin” is in generic name and gene is “lep”

41
Q

this drug is used to treat chronic weight management with hereditary obesity
mutation/clinical utility: PCSK1, POMC, LEPR

A

Setmelanotide (IMCIVREE)
* sounds like semaglutide which is ozempic which is used for obesity *

42
Q

this drug is used for treatment of familial hypercholesteremia (FH) or clinical atherosclerotic cardiovascular disease (ASCVD)
mutation/clinical utility: LDLR, PCSK9, APOB

A

inclisiran (LEQVIO)

43
Q

this drug is used to treat familial hypercholesteremia (FH) as an adjunct to other first line therapies
mutation/clinical utility: LDLR, PCSK9

A

Evolocumab (REPATHA)

44
Q

this drug is used to treat primary hypercholesteremia, dyslipidemia and familial hypercholesteremia (FH)
mutation/clinical utility: LDLR, SLCO1B1

A

rosuvastatin calcium (CRESTOR)

45
Q

these two drugs are used to treat erosive esophagitis (EE) and heartburn associated with symptomatic non-erosive GERD
mutation/clinical utility: CYP2C19

A

Dexlansoprazole (DEXILANT) and Rabeprazole (PARIET)

46
Q

this drug is used for bowel cleansing prior to colonoscopy or barium enema X-ray examination. individuals with G6PD deficiency are at a higher risk of hemolytic anemia
mutation/clinical utility: G6PD

A

sodiums update (MOVIPREP)
* “prep” for colonoscopy *

47
Q

these two drugs are used for treatment of overactive bladder
mutation/clinical utility: CYP2D6

A

Darifenacin (ENABLEX) and Fesoterodine (TOVIAZ)

48
Q

this drug is used to treat primary hyperoxaluria type 1 (PH1) to lower urinary oxalate levels
mutation/clinical utility: AGXT

A

Lumasiran (OXLUMO)

49
Q

this drug is used to treat thrombocytopenia or aplastic anemia
mutation/clinical utility: F5, SERPINC1

A

Eltrombopag (PROMACTA)

50
Q

this drug is used to increase plasma levels of factor VIII activity in hemophilia A (F8 deficiency) and von Willebrand’s disease type I (VWF) during surgery or reduced bleeding from an injury
mutation/clinical utility: F8, VWF

A

desmopressin (DDAVP)
* prevents bed wetting therefore prevents liquid, therefore prevents bleeding *

pharmacogenomics 4860 (10 decks)

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