Genetics Flashcards Preview

Year 2 - Endocrinology (DP) > Genetics > Flashcards

Flashcards in Genetics Deck (18):
1

What is the mode of inheritance of MODY?

Autosomal dominant

2

Is MODY insulin-dependent or insulin-independent?

Insulin-independent

3

What is the typical age of onset for MODY?

Age

4

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

Transcription factor mutations to HNF1α (MODY3)

5

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

Glucokinase mutations (MODY2)

6

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

MODY3

7

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

MODY2

8

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

MODY3

9

When does MODY2 present?

At birth

10

What sort of hyperglycaemia does MODY2 have?

Stable

11

How is MODY2 treated?

Diet

12

When does MODY3 present?

Adolescence

13

What sort of hyperglycaemia does MODY3 have?

Progressive

14

How is MODY3 treated?

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

15

In what type of MODY are complications most common?

MODY3

16

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

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

17

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

Diagnosed 0-6 weeks
Needs lifelong insulin

18

How common is neonatal DM?

1 in 200,000 live births