Monogenic Diabetes

Question 1

what is monogenic diabetes?

Answer 1

diabetes caused by a mutation in a single gene

Question 2

what is another name for monogenic diabetes and why?

Answer 2

mendelian diabetes

it is a mendelian disease

Question 3

how can monogenic diabetes be inherited?

Answer 3

either autosomal dominant or recessive

Question 4

what is the most common form of monogenic diabetes?

Answer 4

MODY

Question 5

what can types of monogenic diabetes be split into?

Answer 5

defects in insulin secretion

defects in insulin action

Question 6

what are two types of monogenic diabetes caused by defects in insulin secretion?

Answer 6

MODY

neonatal diabetes

Question 7

what is MODY?

Answer 7

maturity onset diabetes of the young

Question 8

when does neonatal diabetes come on?

Answer 8

the neonatal period - usually within the first six months of birth

Question 9

name two genes that can cause monogenic diabetes with defects in insulin action

Answer 9

AKT

CIDEC

Question 10

how is MODY inherited?

Answer 10

autosomal dominant pattern

Question 11

is MODY insulin dependent?

Answer 11

no

Question 12

when does MODY come on?

Answer 12

before 25

Question 13

what are the two types of MODY?

Answer 13

glucokinase

transcription factor

Question 14

what causes transcription factor MODY?

Answer 14

defects in mitochondrial metabolism

Question 15

describe the effect of an OGTT in glucokinase MODY

Answer 15

high fasting glucose

respond well - BG down

Question 16

describe the effect of an OGTT in a TF MODY

Answer 16

normal fasting glucose

responds poorly - BG up

Question 17

when does glucokinase MODY come on?

Answer 17

birth

Question 18

how is glucokinase MODY managed?

Answer 18

none really

diet

Question 19

name two mutations causing transcription factor MODY

Answer 19

HNF-1a

HNF-1b

Question 20

when does TF MODY come on?

Answer 20

adolescence/young adulthood

Question 21

how is TF MODY managed?

Answer 21

sulphonylureas