MODY Flashcards

1
Q

what is MODY

A

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

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2
Q

is there autoimmune beta cell destruction in MODY

A

no- means its non insulin dependent diabetes

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3
Q

how is MODY inherited

A

autosomal dominant- 50% chance of getting it from parent

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4
Q

what are the types of MODY

A

glucokinase
transcription factors- HNF1alpha, HNF4alpha, HNF1beta
MODY x

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5
Q

what is glucokinase

A

the pancreatic glucose sensor

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6
Q

what happens when there is a glucokinase mutation

A

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

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7
Q

do people with glucokinase mutations need treatment

A

no- diet treatment

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8
Q

when do people develop glucokinase MODY

A

have it from birth

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9
Q

when does transcription factor (HNF-1alpha) develop

A

gradually over time

adolescent/ young adult onset

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10
Q

are complications common in glucokinase MODY

A

no

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11
Q

what are the signs of glucokinase MODY

A

stable hyperglycaemia

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12
Q

what are the treatments options for transcription factor MODY

A

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

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13
Q

are complications common in transcription factor MODY

A

yes

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14
Q

what medication is HNF1alpha MODY sensitive to

A

sulphonylureas

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15
Q

what causes diabetes in HNF1 alpha mutations

A

defect throughout glucose metabolism pathway within beta cell

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16
Q

why do sulphonylureas work in HNF1 alpa mody

A

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

17
Q

what does C peptide measure

A

co secreted with insulin- measure of endogenous insulin production

18
Q

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

A

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

19
Q

what are the types of neonatal diabetes

A

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

20
Q

what is the hallmark of neonatal diabetes

A

when you need insulin within the first 3 months of life

21
Q

where is the problem in PNDM

A

in KATP channel, makes KATP insensitive to intracellular ATP

22
Q

what medication is PNDM responsive to

A

sulphonylureas

23
Q

how is PNDM different from MODY

A

as NDM dont produce insulin- no C peptide

24
Q

how much of diabetes is MODY

A

3% of all diagnosed under 30