Treatment of Genetic Disease Flashcards
Why is it difficult to cure genetic disease
Because every single cell in your body is fucked
Trisomy Treatment
Supportive care and better cardiac surgery has increased mean survival from 25 to 49
Multiple Endocrine Neoplasia Treatment
Genetic testing for autosomal dominant mutations IDs presymptomatic carrier –> take out thyroid (prevent thyroid carcinoma)
Multiple Endocrine Neoplasia - inheritance pattern?
how does genetic relate?
Autosomal dominant
Use genetic testing to manage disease (remove thyroid if have mutation)
Metabolic diseases
Usual inheritance pattern
autosomal recessive
Metabolic diseases (e.g. PKU) How do we target?
Newborn screening
Diet modification - low phenylalanine diet
How can we target alpha-1 AT?
Protein replacement therapy
Recombinant AT1 therapy
How can we target Fabry disease?
Alpha galactosidase
Protein replacement therapy
My patient has G6PD deficiency, what would I tell him to avoid?
Antimalarial drugs
My patient has Acute intermittent porphyria, what would I tell him to avoid?
Barbiturates
My patient has PKU, what would I tell them to avoid?
Phenylalanine
My patient has Galactosemia, what would I tell them to avoid?
Galactose
My patient has Congenital hypothyroidism, what would I give them
Thyroxine
My patient has biotinidase deficiency, what woudl I give them
Biotin
My patient has Urea cycle deficieny, what would I give them
Sodium benzoate
My patient is heterozygous for hypercholesterolemia
what diversion would I give them
what inhibitor would I give them?
oral resin diversion
statin drug inhibition
My patient is homozygous for hypercholesterolemia, what depletor would I give them
LDL apheresis
Target at level of mutant protein
What would I give homocystinuria patient?
pyridoxine
50% respond
cofactor replacement
