Genetics Flashcards

1
Q

What is the mode of inheritance of MODY?

A

Autosomal dominant

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2
Q

Is MODY insulin-dependent or insulin-independent?

A

Insulin-independent

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3
Q

What is the typical age of onset for MODY?

A

Age

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4
Q

What is the most common cause of MODY and what type is this?

A

Transcription factor mutations to HNF1α (MODY3)

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5
Q

What is the second most common cause of MODY and what type is this?

A

Glucokinase mutations (MODY2)

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6
Q

What type of MODY has the greatest rise in glucose is untreated?

A

MODY3

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7
Q

What type of MODY sees glucose rise at a similar rate to normal as we age, albeit at a higher level?

A

MODY2

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8
Q

What type of MODY shows worse glucose tolerance on OGTT; MODY2 or MODY3?

A

MODY3

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9
Q

When does MODY2 present?

A

At birth

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10
Q

What sort of hyperglycaemia does MODY2 have?

A

Stable

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11
Q

How is MODY2 treated?

A

Diet

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12
Q

When does MODY3 present?

A

Adolescence

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13
Q

What sort of hyperglycaemia does MODY3 have?

A

Progressive

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14
Q

How is MODY3 treated?

A

One third -> Diet
One third -> SUs
One third -> Insulin

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15
Q

In what type of MODY are complications most common?

A

MODY3

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16
Q

What are the features of Transient Neonatal Diabetes (TNDM)?

A

Diagnosed less than 1 week old
Resolves in 12 weeks
Stop insulin once resolved

17
Q

What are the features of Permanent Neonatal Diabetes (PNDM)?

A

Diagnosed 0-6 weeks

Needs lifelong insulin

18
Q

How common is neonatal DM?

A

1 in 200,000 live births