Other Susceptibilities (Final Exam) Flashcards
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
Ivacaftor (KALYDECO)
these two drugs are used for the treatment of cystic fibrosis (CF) with the CFTR p.F508del mutation
mutation/clincal utility: CFTR
Ivacaftor + Lumacaftor (ORKAMBI)
& Ivacaftor + Tezacaftor (SYMDEKO)
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
Ivacaftor + Tezacaftor + Elexacaftor (TRIKAFTA)
this drug is used to treat rheumatoid arthritis, preventing renal transplant rejection, chron’s disease and colitis.
mutation/clinical utility: TPMT/NUDT15
Azathioprine (IMURAN)
true or false: reducing dosing levels of Azathioprine (IMURAN) due to the presence of TPMT & NUDT15 variants does reduce the therapeutic efficacy
false - it does NOT reduce the therapeutic efficacy
these variants of TPMT have greatly reduced TPMT activity
2/3A/*3C
these variants of NUDT15 are poor metabolizers
2/3
these variants of NUDT15 are intermediate metabolizers
4/5/*6
this drug is used for the treatment of rheumatoid arthritis, osteoarthritis, ankylosing spondylitis and the management of acute pain.
mutation/clinical utility: CYP2C9
celecoxib (CELEBREX)t
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
pegloticase (KRYSTEXXA)
this drug is used to treat deficiency of interleukin-1 receptor antagonist (DIRA)
mutation/clinical utility: IL1RN
anakinra (KINARET)
this drug is used for the treatment of pseudobulbar affect (PBA)
mutation/clinical activity: CYP2D6
dextromethorphan/quinidine (NUEDEXTA)
this drug is used for treatment of molybdenum cofactor deficiency (MoCD) type A
mutation/clinical utility: MOCS1 (A/B)
Fosdenopterin (NULIBRY)
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)
Siponimod (MAYZENT)
M in “multiple” and brand name starts with M
S in “sclerosis” and generic name starts with S
this drug is used to treat cataplexy and excessive daytime sleepiness (EDS) associated with narcolepsy
mutation/clinical utility: ALDH5A1
Sodium Oxybate (XYREM)
these two drugs are used to treat various seizure types
mutation/clinical utility: HLA-B*15:02
Carbamazepine (TEGRETOL) & Phenytoin (DILANTIN)
this drug is used to treat various seizure types
mutation/clinical utility: POLG
valproic acid (DEPAKENE)
this drug is used to treat seizures associated with CDKL5 deficiency disorder (CDD)
mutation/clinical utility: CDKL5
Ganaxolone (ZTALMY)
this drug is used to treat Alzheimers disease with a known amyloid beta pathology
mutation/clinical utility: APOE
Lecanemab (LEQEMBI)
individuals with Apolipoprotein E ______ have increased risk for amyloid related imaging abnormalities (ARIA)
E4/E4
this drug is used to treat Lambert-Eaton myasthenic syndrome (LEMS)
mutation/clinical utility: NAT2
Amifampridine (RUZURGI)
this drug is used to treat Duchenne Muscular Dystrophy (DMD) with a DMD gene mutation amendable to exon 45 skipping
mutation/clinical utility: DMD
Casimersen (AMONDYS 45)
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
Eteplirsen (EXONDYS 51)
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
Golodirsen (VYONDYS 53) & Viltolarsen (VILTEPSO)
this drug is used to treat spinal muscular atrophy (SMA)
mutation/clinical utility: SMN1/SMN2
Risdiplam (EVRYSDI)
this drug is used to treat hyperkinetic movement disorders like chorea in Huntingtons disease, Tourette syndrome and tar dive dyskinesia
mutation/clinical utility: CYP2D6
Tetrabenazine (XENAZINE)
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
Tofersen (QALSODY)
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
Bupivacaine (MARCAINE)
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
Desflurane, Isoflurane & Sevoflurane
this drug is used for induction of anesthesia during intubation and promote skeletal muscle relaxation during surgery or mechanical ventilation
mutation/clinical utility: BCHE
Mivacurium Chloride (MIVACRON)
this drug is used in adjunct for tracheal intubation or mechanical ventilation
mutation/clinical utility: BCHE
Succinylcholine (QUELICIN)
these two drugs are used to treat moderate to severe pain
mutation/clinical utility: CYP2D6
Codeine sulfate (CODEINE) & tramadol (ULTRAM)
this is used for treatment of osteoarthritis and rheumatoid arthritis
mutation/clinical utility: CYP2C9
Meloxicam (QMIIZ ODT)
this drug is used to treat HIV
mutation/clinical utility: HLA-B*57:01 <- presence of this can increase the risk of s/e
Abacavir (ZIAGEN)
this drug is used to treat HIV
mutation/clinical utility: CYP 2B6
Efavirenz (SUSTIVA)
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
Tefenoquine (ARAKODA) and Primaquine Phosphate
* treats malaria therefore ends in “Quine”
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
sulfadiazine (SALVADENE)
* treats sepsis that starts with S therefore generic and brand name also start with S *
this drug treats invasive aspergillosis, deep tissue Candida infections, esophageal candidiasis and serious fungal infection.
mutation/clinical utility: CYP2C19
Voriconazole (VFEND)
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
Chlorpropamide, Glimepiride, Gilbenclamide & Tolbutamide
* all end in ide *
this drug is used for treatment of complications of leptin deficiency in patients with congenital acquired generalized lipodystrophy
mutation/clinical utility: LEP
metraleptin (MYALEPT)
* treats “leptin” and “leptin” is in generic name and gene is “lep”
this drug is used to treat chronic weight management with hereditary obesity
mutation/clinical utility: PCSK1, POMC, LEPR
Setmelanotide (IMCIVREE)
* sounds like semaglutide which is ozempic which is used for obesity *
this drug is used for treatment of familial hypercholesteremia (FH) or clinical atherosclerotic cardiovascular disease (ASCVD)
mutation/clinical utility: LDLR, PCSK9, APOB
inclisiran (LEQVIO)
this drug is used to treat familial hypercholesteremia (FH) as an adjunct to other first line therapies
mutation/clinical utility: LDLR, PCSK9
Evolocumab (REPATHA)
this drug is used to treat primary hypercholesteremia, dyslipidemia and familial hypercholesteremia (FH)
mutation/clinical utility: LDLR, SLCO1B1
rosuvastatin calcium (CRESTOR)
these two drugs are used to treat erosive esophagitis (EE) and heartburn associated with symptomatic non-erosive GERD
mutation/clinical utility: CYP2C19
Dexlansoprazole (DEXILANT) and Rabeprazole (PARIET)
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
sodiums update (MOVIPREP)
* “prep” for colonoscopy *
these two drugs are used for treatment of overactive bladder
mutation/clinical utility: CYP2D6
Darifenacin (ENABLEX) and Fesoterodine (TOVIAZ)
this drug is used to treat primary hyperoxaluria type 1 (PH1) to lower urinary oxalate levels
mutation/clinical utility: AGXT
Lumasiran (OXLUMO)
this drug is used to treat thrombocytopenia or aplastic anemia
mutation/clinical utility: F5, SERPINC1
Eltrombopag (PROMACTA)
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
desmopressin (DDAVP)
* prevents bed wetting therefore prevents liquid, therefore prevents bleeding *
