MODY and other genetic diabetes Flashcards Preview

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Flashcards in MODY and other genetic diabetes Deck (12):
1

What does MODY stand for>

maturity onset diabetes of the young

2

What is the inheritance for MODY?

autosomal dominant

3

How old are most patients when they present?

before age 25

4

What are the 2 phenotypes of MODY?

glucokinase and transcription factor- HNF-1alpha

5

What is the problem in a glucokinase mutation?

there is a defect in sensing glucose- it takes a higher level of glucose for the enzyme to recognise

6

What are the features of glucokinase MODY?

onset at birth; no treatment needed; stable hyperglycaemia; complications rare

7

What are the features of transcription factor mutations?

adolescence/young adult onset; progressive hyperglycaemia; complications frequent

8

What drugs are transcirption factor MODy sensitive to?

sulphonylureas

9

What are the 2 types of neonatal diabetes?

transient neonatal diabetes ; permanent neonatal diabetes

10

What is the time period that transient neonatal diabetes tends to resolve in?

12 weeks

11

What is the action of sulphonyureas?

close the Katp channel, depolarising the membrane and causing insulin secretion

12

What genetic mutation occurs in neonatal diabetes?

potassium channel gene mutations- so ATP cannot close the channel