MODY Flashcards

1
Q

MODY is autosomal dominant/recessive

A

MODY is autosomal DOMINANT

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2
Q

MODY is insulin/non-insulin dependent

A

MODY is NON-INSULIN DEPENDENT

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3
Q

MODY age of onset is before what?

A

25

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4
Q

heterozygous glucokinase mutations cause what?

A

MODY2

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5
Q

what is termed the ‘pancreatic glucose sensor’?

A

glucokinase

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6
Q

name the 2 distinct phenotypes of MODY

A

glucokinase and transcription factor (HNF-1alpha)

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7
Q

glucokinase mutation or transcription factor mutation?

Onset at birth
Stable hyperglycaemia
Diet treatment
Complications rare

A

glucokinase mutation

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8
Q

glucokinase mutation or transcription factor mutation?

Adolescence/young adult onset
Progressive hyperglycaemia
1/3 diet, 1/3 OHA, 1/3 Insulin
Complications frequent

A

transcription factor mutation

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9
Q

do you need insulin in glucokinase MODY?

A

NO!

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10
Q

state the most common type of HNF mutation in MODY

A

HNF-1alpha MODY

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11
Q

those with neonatal diabetes (rare) require _______ treatment within the first _ months of life

A

those with neonatal diabetes (rare) require INSULIN treatment within the first 3 months of life

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12
Q

name the 2 types of neonatal diabetes

A

transient neonatal diabetes - TNDM

permanent neonatal diabetes -PNDM

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13
Q

TNDM or PNDM:

diabetes diagnosed <1 week

resolves in 12 weeks

stop insulin

A

TNDM

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14
Q

TNDM or PNDM:

diabetes diagnosed 0-6 weeks

lifelong insulin treatment

A

PNDM

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15
Q

HNF-1alpha treatment?

A

SU sensitive

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16
Q

GCK MODY treatment?

A

do not require treatment

17
Q

neonatal diabetes can be caused by __________ channel gene mutations

A

neonatal diabetes can be caused by POTASSIUM channel gene mutations

18
Q

neonates with potassium channel gene mutations is ____ - they can transfer off lifelong _______

A

neonates with potassium channel gene mutations is RARE - they can transfer off lifelong INSULIN

19
Q

what drug is also useful in PNDM?

A

sulphonylurea

20
Q

who still has no idea what MODY is?

A

me:)