MODY and other genetic diabetes

Question 1

What does MODY stand for>

Answer 1

maturity onset diabetes of the young

Question 2

What is the inheritance for MODY?

Answer 2

autosomal dominant

Question 3

How old are most patients when they present?

Answer 3

before age 25

Question 4

What are the 2 phenotypes of MODY?

Answer 4

glucokinase and transcription factor- HNF-1alpha

Question 5

What is the problem in a glucokinase mutation?

Answer 5

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

Question 6

What are the features of glucokinase MODY?

Answer 6

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

Question 7

What are the features of transcription factor mutations?

Answer 7

adolescence/young adult onset; progressive hyperglycaemia; complications frequent

Question 8

What drugs are transcirption factor MODy sensitive to?

Answer 8

sulphonylureas

Question 9

What are the 2 types of neonatal diabetes?

Answer 9

transient neonatal diabetes ; permanent neonatal diabetes

Question 10

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

Answer 10

12 weeks

Question 11

What is the action of sulphonyureas?

Answer 11

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

Question 12

What genetic mutation occurs in neonatal diabetes?

Answer 12

potassium channel gene mutations- so ATP cannot close the channel