MODY Flashcards
what is MODY
maturity onset diabetes of the young (type 2 that comes on in young people caused by genetic defects)
is there autoimmune beta cell destruction in MODY
no- means its non insulin dependent diabetes
how is MODY inherited
autosomal dominant- 50% chance of getting it from parent
what are the types of MODY
glucokinase
transcription factors- HNF1alpha, HNF4alpha, HNF1beta
MODY x
what is glucokinase
the pancreatic glucose sensor
what happens when there is a glucokinase mutation
unable to recognise glucose concentration- still produce insulin so dont get high peaks after meals but resting fasting glucose is high
do people with glucokinase mutations need treatment
no- diet treatment
when do people develop glucokinase MODY
have it from birth
when does transcription factor (HNF-1alpha) develop
gradually over time
adolescent/ young adult onset
are complications common in glucokinase MODY
no
what are the signs of glucokinase MODY
stable hyperglycaemia
what are the treatments options for transcription factor MODY
1/3rd diet, 1/3rd OHA (sulphonylureas), 1/3rd insulin
are complications common in transcription factor MODY
yes
what medication is HNF1alpha MODY sensitive to
sulphonylureas
what causes diabetes in HNF1 alpha mutations
defect throughout glucose metabolism pathway within beta cell
why do sulphonylureas work in HNF1 alpa mody
as act on KATP channels, not involved in metabolism of glucose within the beta cell
(close KATP, membrane depolarises, calcium influx, insulin secretion)
what does C peptide measure
co secreted with insulin- measure of endogenous insulin production
what should you measure in all patients with a diagnosis of T1DM
C peptide- will show whether they are actually able to produce insulin
what are the types of neonatal diabetes
transient- diagnosed< 1 week, resolves at usually 12 weeks (can stop insulin)
permanent- undiagnosed 0-6 weeks, lifelong insulin treatment
what is the hallmark of neonatal diabetes
when you need insulin within the first 3 months of life
where is the problem in PNDM
in KATP channel, makes KATP insensitive to intracellular ATP
what medication is PNDM responsive to
sulphonylureas
how is PNDM different from MODY
as NDM dont produce insulin- no C peptide
how much of diabetes is MODY
3% of all diagnosed under 30
