Monogenic Diabetes Flashcards
genetics of MODY
AuD in inheritance
typically seen with a family history of 3 generations
what is MODY often misdiagnosed as
onset before 25 - T1DM
onset later on - T2DM
mutations in glucokinase MODY
mutations in it can cause a right shift in the insulin response curve so that the set point of glucose is higher (around 7 as opposed to 5 mmol/L)
produces a stable hyperglycaemia
what is glucokinase
the enzyme that phsophorylates glucose when it enters the ß cell through GLUT 2
is glucokinase MODY progessive
no
will there be response to insulin in glucokinase MODY
yes, if the stimulus is high enough
HbA1c in glucokinase MODY
may be slightly raised due to raised fasting glucose
treatment of glucokinase MODY
no need for treatment - only dietary control
are there complications in glucokinase MODY
no
TF MODY
produces a progressive hyperglycaemia, much like T2DM
onset of TF MODY
often adolescent/young teen
complications in TF MODY?
both micro and macro vascular complications
treatment of TF MODY
sulphonylureas
what can be useful in diagnosing MODY and the mutational type
OGTT
neonatal diabetes
rare
often patients are previously misdiagnosed with DM, so can transfer off insulin
what mutations can cause neonatal diabetes
potassium channel gene mutations eg Kir6 (pore subunit) in KATP channel in ß cell
what are some neonatal diabetes patients responsive to
SUR
what is the main feature of ND
being diagnosed under the age of 6 months
transient ND
usually resolves around the age of 12 months - can recur later in life (teenage years)
2 types of ND
transient and permanent
