Monogenic diabetes

Question 1

monogenic diabetes

Answer 1

diabetes caused by a mutation in a single gene
mendelian disease

Question 2

is it autosomal dominant or recessive

Answer 2

can be either

Question 3

what does monogenic diabetes result in

Answer 3

defects in insulin secretion or insulin action

Question 4

types of monogenic diabetes

Answer 4

MODY- maturity onset diabetes of the young
neonatal diaberes

Question 5

what mode of inheritance is MODY

Answer 5

autosomal dominant

Question 6

is MODY insulin dependant

Answer 6

no

Question 7

what are the two distinct phenotypes of MODY

Answer 7

glucokinase mutations
transcription factor mutations

Question 8

Characteristics of MODY

Answer 8

onset at birth
stable hyperglycaemia
diet treatment
complications rare

Question 9

transcription factor mutations charcateristics

Answer 9

adolescence/ young adult onset
progressive hyperglycaemia
complications frequent

Question 10

does treatment make a difference in GCK-MODY

Answer 10

no

Question 11

is GCK associated with increased risks

Answer 11

no

Question 12

is there a need for diabbetes treatment in GCK MODY

Answer 12

No

Question 13

who are more sensitive to sulfonylureas than patient with T2DM

Answer 13

patients with HNF-1A MODY

Question 14

Treatment for HNF1A MODY

Answer 14

can transition off insulin to low dose sulfonylureas

Question 15

What does MODY predominantly affect

Answer 15

pancreatic b cell fuhnction

Question 16

glucokinase mutation s

Answer 16

glucokinase acitvity impaired resulting in a glucose sensing defect - blood glucose threshold for insulin secretion increased

Question 17

function of glucokinase

Answer 17

phosphorylation of glucose to glucose 6 phosphate

Question 18

main transcription fcator mutations

Answer 18

HNF-1alpha
HNF-4alpha
HNF-1beta

Question 19

what do the transcription fcators play a key role in

Answer 19

pancreas foetal development and neogenesis

Question 20

oral glucose tolerance test and GCK

Answer 20

those with gck mody will have a high fasting blood glucose but comes down when given oral challenge

Question 21

transcription factor mutation and oral glucose tolerance test

Answer 21

will have a normal fasting blood glucose but dont respond well to glucose challenge