MODY

Question 1

what does it stand for?

Answer 1

maturity onset diabetes of the young

monogenic diabetes

Question 2

what helps exclude T1DM?

Answer 2

antibodies
c peptide
T1 genetic risk score

Question 3

what is it?

Answer 3

a non-insulin dependent diabetes often misdiagnosed as T1 or T2
3% of those diagnosed with diabetes under 30

Question 4

who gets it?

Answer 4

autosomal dominant inheritance

age of onset usually before 25

Question 5

pathogenesis

Answer 5

mutations in components of the K/ATP channel, glucokinase or HNF-1 alpha

Question 6

what is glucokinase?

Answer 6

pancreatic glucose sensor
a glucokinase mutation causes damage to the sensor (beta cell function is normal) causes a right shift in the curve - basically have a higher BG

Question 7

how does glucokinase mutation MODY present?

Answer 7

onset at birth 
stable hyperglycaemia 
diet treatment 
complications rare 
treatment is ineffective so no point in treating (unless pregnant)

Question 8

presentation of transcription factor mutation MODY?

Answer 8

adolescence/ young adult onset 
progressive hyperglycaemia 
1/3 diet 
1/3 oral hypoglycaemic agent (OHA) e.g. SU
1/3 insulin 
complications are frequent

Question 9

what is neonatal diabetes?

Answer 9

diabetes diagnosed in the neonatal period
requires insulin treatment within the first 3 month of life
very rare

Question 10

what is transient neonatal diabetes (TNDM)

Answer 10

usually diagnosed <1week
resolves around 12 weeks
stop insulin

Question 11

what is permanent neonatal diabetes (PNDM)

Answer 11

permanent neonatal diabetes
usually diagnosed 0-6 weeks
lifelong insulin treatment

Question 12

what causes neonatal diabetes?

Answer 12

can be potassium channel gene mutations - these patients are rare - can transfer off lifelong insulin