MODY Flashcards
What is the inheritance of MODY?
Autosomal dominant inheritance
When is the common onset of MODY?
Before the age of 25
What are the different types of MODY?
Glucokinase receptor problems
Transcription factor problems
MODY x
What transcription factor is most commonly affected in MODY?
70% are HNF1-alpha
What type of MODY does a glucokinase mutation cause?
MODY2
What are the characteristics of glucokinase MODY?
Onset at birth
Stable hyperglycaemia
Diet treatment
Complications rare
What are the characteristics of transcription factor MODY?
Adolescence/ YA onset
Progressive hyperglycaemia
1/3rd diet, 1/3rd OHA, 1/3rd insulin
Complications frequent
What should be tested in MODY?
C-peptide in all patients with T1DM
What is transient neonatal diabetes (TNDM)?
Diabetes usually diagnosed within the first week after birth
Resolve in around 12 weeks when insulin can be stopped
What is permanent neonatal diabetes (PNDM)?
Diabetes usually diagnosed 0-6 weeks
Lifelong treatment with inslun
How are sulphonylureas utilised in PNDM?
Close kATP channel
Depolarise membrane
Calcium influx
Insulin secretion
What are HNF1A mutations sensitive to?
SU
What causes neonatal diabetes?
Potassium channel gene mutations
