MODY Flashcards
What are the three identifying points for MODY?
Autosomal dominant inheritance
Non insulin dependant
Usually onset before 25 years
What is the action of glucokinase within the cell?
Pancreatic glucose sensor
Glucokinase
1st rate limiting step in glycolysis
Converts glucose to glucose-6-phosphate
What happens if there is a glucokinase defect
Right shift
Insulin is under produced
High glucose from birth
What is the effect on blood glucose levels in a glucokinase defect?
Stable hyperglycaemia
Slightly elevated HB1Ac
Are there any issues in a glucokinase defect?
No complications
No treatment
No need for insulin
Issue in pregnancy
HNF-1 α treatment
Sulphonylureas
Why do HNF-1 α respond to SU’s?
As the defect impacts the sensitising cycle before KATP channels.
What are the two types of neonatal diabetes?
Transient
Permanent
Transient Neonatal diabetes
Occurs very rapidly after birth, but resolves within 12 weeks.
Disease re-occurs in adolescence
Permanent Neonatal diabetes
Appears within first 6 weeks
What occurs in almost half of all neonatal diabetes cases?
A mutation on Kir6.2 channel within the KATP channels
In neonatal diabetes with a Kir 6.2 mutation what is the treatment of choice?
Sulphonylureas
- Tolbutamide
- Glibenclamide
What is the defining point of neonatal diabetes that can help point towards the diagnosis?
A neonate requiring insulin injection within 2 weeks of birth.
Insulin is withdrawn over time to be replaced by SU’s
