MODY

Question 1

what is MODY

Answer 1

maturity onset diabetes of the young (type 2 that comes on in young people caused by genetic defects)

Question 2

is there autoimmune beta cell destruction in MODY

Answer 2

no- means its non insulin dependent diabetes

Question 3

how is MODY inherited

Answer 3

autosomal dominant- 50% chance of getting it from parent

Question 4

what are the types of MODY

Answer 4

glucokinase
transcription factors- HNF1alpha, HNF4alpha, HNF1beta
MODY x

Question 5

what is glucokinase

Answer 5

the pancreatic glucose sensor

Question 6

what happens when there is a glucokinase mutation

Answer 6

unable to recognise glucose concentration- still produce insulin so dont get high peaks after meals but resting fasting glucose is high

Question 7

do people with glucokinase mutations need treatment

Answer 7

no- diet treatment

Question 8

when do people develop glucokinase MODY

Answer 8

have it from birth

Question 9

when does transcription factor (HNF-1alpha) develop

Answer 9

gradually over time

adolescent/ young adult onset

Question 10

are complications common in glucokinase MODY

Answer 10

no

Question 11

what are the signs of glucokinase MODY

Answer 11

stable hyperglycaemia

Question 12

what are the treatments options for transcription factor MODY

Answer 12

1/3rd diet, 1/3rd OHA (sulphonylureas), 1/3rd insulin

Question 13

are complications common in transcription factor MODY

Answer 13

yes

Question 14

what medication is HNF1alpha MODY sensitive to

Answer 14

sulphonylureas

Question 15

what causes diabetes in HNF1 alpha mutations

Answer 15

defect throughout glucose metabolism pathway within beta cell

Question 16

why do sulphonylureas work in HNF1 alpa mody

Answer 16

as act on KATP channels, not involved in metabolism of glucose within the beta cell
(close KATP, membrane depolarises, calcium influx, insulin secretion)

Question 17

what does C peptide measure

Answer 17

co secreted with insulin- measure of endogenous insulin production

Question 18

what should you measure in all patients with a diagnosis of T1DM

Answer 18

C peptide- will show whether they are actually able to produce insulin

Question 19

what are the types of neonatal diabetes

Answer 19

transient- diagnosed< 1 week, resolves at usually 12 weeks (can stop insulin)
permanent- undiagnosed 0-6 weeks, lifelong insulin treatment

Question 20

what is the hallmark of neonatal diabetes

Answer 20

when you need insulin within the first 3 months of life

Question 21

where is the problem in PNDM

Answer 21

in KATP channel, makes KATP insensitive to intracellular ATP

Question 22

what medication is PNDM responsive to

Answer 22

sulphonylureas

Question 23

how is PNDM different from MODY

Answer 23

as NDM dont produce insulin- no C peptide

Question 24

how much of diabetes is MODY

Answer 24

3% of all diagnosed under 30