Monogenic diabetes Flashcards
what is the cause of monogenic diabetes?
mutation in single gene
what is the most common type of monogenic diabetes?
MODY
What are the 4 different types of defects that can occur in monogenic diabetes?
in insulin secretion
in insulin action
in insulin signalling
in fat storage
What defect is present in MODY?
defect in insulin secretion
Is MODY autosomal dominant or recessive?
autosomal dominant
What 3 mutations can occur in MODY? (from most common to least)
Transcription factors
glucokinase
MODY x
Give an example of a transcription factor that can be mutated…
HNF1- alpha
At what age is GCK MODY most likely to present?
at birth
How does GCK MODY present?
stable hyperglycaemia
Tx for GCK MODY…
no need for tx
just adjust diet
Tx for HNF1-alpha MODY…
low dose sulphonylureas
Complications are common in transcription factors MODY
True of false
true
how does transcription factors MODY present?
progressive hyperglycaemia
What defect is present in neonatal diabetes?
defect in insulin secretion
Tx for neonatal diabetes…
high dose sulphonylureas
