monogenic diabetes

Question 1

what is monogenic diabetes?

Answer 1

-diabetes caused by a mutation in a single gene

Question 2

whats another name for monogenic diabetes?

Answer 2

mendelian diabetes

Question 3

is monogenic diabetes autosomal dominant or recessive?

Answer 3

-can be either

Question 4

what is the most common for of monogenic diabetes?

Answer 4

MODY

Question 5

what is a common feature of monogenic insulin resistence?

Answer 5

• ancanthosis nigricans (seen in hyperinsulinemic states) caused by insulin driven epithelial overgrowth
• lypodystrophy (problem in the way the body stores and uses the fat)

Question 6

what is a common feature of monogenic insulin resistence?

Answer 6

• ancanthosis nigricans (seen in hyperinsulinemic states) caused by insulin driven epithelial overgrowth
• lypodystrophy (problem in the way the body stores and uses the fat)

Question 7

what type of inheritence is MODY (maturity onset of diabetes of the young)?

Answer 7

-autosomal dominant inheritence

Question 8

is MODY insulin requiring diabetes?

Answer 8

no like type 2

Question 9

what is the usual onset for MODY?

Answer 9

<25

Question 10

what determines the phenotype defect in MODY?

Answer 10

which gene is affected- there are 11 genes

Question 11

what are some of the most common MODY defects?

Answer 11

• defects in mitochondrial metabolism e.g. Krebs cycle (transcription factor MODY)
• defects in glucokinase (the rate limiting factor of glycolysis) and hence affecting glycolysis

Question 12

how does blood glucose levels change for someone with transcription factor MODY ?

Answer 12

-Transcription factor MODY will have normal glucose in early childhood and then in teenage/early adulthood there is a quick rise in blood glucose

Question 13

how does blood glucose levels change for someone with glucokinase MODY ?

Answer 13

-they have a high fasting glucose from birth and then it raises gradually over time

Question 14

what would an oral glucose tolerance test results look like for someone with a glucokinase MODY?

Answer 14

• normal fasting glucose

- because able to respond well to oral glucose and can produce lots of insulin they bring their glucose down very well

Question 15

what would an oral glucose tolerance test results look like for someone with a transcription factor mutation MODY?

Answer 15

• theyre fasting glucose will be high

- once given glucose theyre glucose will go sky high and struggle to lower back to normal (blue line)

Question 16

what are the 2 mutations MODY can mainly be split into?

Answer 16

• glucokinase mutations

- transcription factor mutations

Question 17

what is the onset for glucokinase MODY ?

Answer 17

birth

Question 18

what is the onset for transcription factor MODY ?

Answer 18

adolescence/ young adult onset

Question 19

what is the treatment for glucokinase MODY?

Answer 19

diet treatment

Question 20

what is the treatment for transcription factor MODY?

Answer 20

1/3 diet
1/3 OHA
1/3 insulin

Question 21

are complications more common in glucokinase MODY or transcription factor MODY?

Answer 21

-transcription factor mody

theyre rare in glucokinase mutation

Question 22

how much more sensitive are patients with HNF-1A mody to sulphanylureas than patients with T2DM?

Answer 22

4 times

Question 23

treatment for HNF1A mody? (transcription factor mutation)

Answer 23

can transition off insulin on to low dose sulphonylureas

Question 24

treatment for KCNJ11/ABCC8 neonatal diabetes?

Answer 24

can transition off insulin onto high dose sulphonylureas