Monogenic Diabetes Flashcards
what does MODY stand for
maturity onset diabetes of the young
what is MODY
type 2 like diabetes coming on in young people
autosomal dominant inheritance
non-insulin dependent diabetes
age of onset usually before age 25
what are some causes of MODY
14% glucokinase
75% transcription factors
11% MODYx
what can go wrong with glucokinase
mutations can stop glucokinase from sensing when glucose is high
two main types of MODY
glucokinase mutations
transcription factor mutations
what are the characteristics of glucokinase mutations
onset at birth
stable hyperglycaemia
diet treatment
complications rare
what are the characteristics of transcription factor mutations
adolescence/young adult onset
progressive hyperglycaemia
1/3 diet, 1/3 OHA, 1/3 Insulin
frequent complications
treatment for glucokinase mutations
just diet?? no drugs needed
treatment for transcription factor mutation diabetes
diet/lifestyle
drugs
insulin
(like type 2)
what happens in transcription factor mutation diabetes
glucose cant enter B cell due to mutation in the transporter
what is neonatal diabetes
hyperglycaemia and ketoacidosis
soon after birth
treatment for neonatal diabetes
requires insulin treatment within first 3 months of life
two types of neonatal diabetes
transient neonatal diabetes - goes away - diagnosed <1 week then resolved within around 12 weeks
permanent neonatal diabetes -needs life long insulin treatment, usually diagnoses at 0-6 weeks
how do you measure insulin production
c-peptide
How is MODY inherited
autosomal dominant
3% of those diagnosed <30
