monogenic diabetes

Question 1

what is monogenic diabetes

Answer 1

diabetes caused by a mutation in a single gene

Question 2

is monogenic diabetes 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

what is the most common monogenic diabetes called

Answer 4

MODY

Question 5

what is another type of monogenic diabetes

Answer 5

neonatal diabetes

Question 6

what is a common clinical feature of insulin resistance

Answer 6

acanthosis nigricans
-insulin driven epithelial overgrowth

defects in fat storage
-lipodystrophy

Question 7

is MODY dominant or recessive

Answer 7

dominant

Question 8

what type of diabetes is MODY

Answer 8

non-insulin dependent diabetes

Question 9

age of onset of MODY

Answer 9

before 25 usually

Question 10

what are the two different types of MODY

Answer 10

• glucokinase mutations

- transcription factor mutations

Question 11

features of glucokinase mutation MODY

Answer 11

• onset at birth
• stable hyperglycaemia
• diet treatment
• complications rare

Question 12

features of transcription factor mutation MODY

Answer 12

• adolescent/young adult onset
• progressive hyperglycaemia
• 1/3 diet, 1/3 OHA, 1/3 insulin
• complications frequent

Question 13

can GCK MODY be treated

Answer 13

no

Question 14

are GCK MODY associated with any complications

Answer 14

no

Question 15

what are the two genes responsible for neonatal diabetes

Answer 15

• KCNJ11

- ABCC8

Question 16

where do half of babies with neonatal diabetes have mutations

Answer 16

Katp channel
(KCNJ11)

Question 17

treatment for KCNJ11 mutation patients

Answer 17

high dose sulphonylureas

Question 18

treatment of HNF1A MODY

Answer 18

transition off insulin onto low dose sulphonylureas