Inherited diabetes Flashcards
Diabetes mellitus
Hyperglycaemia caused by insulin deficiency or resistance
Type 1 diabetes
Destruction of beta cells - environmental factors accelerate B cell autoimmunity and sx progression
genetic risk factors for type 2 diabetes
PPARy, ABCC8
What is gestational diabetes?
Hormones produced in pregnancy mean you can’t use insulin properly
treatment for gestational diabetes
Metformin or insulin injections
neonatal diabetes
Monogenic, autosomal dominant/recessive and affects newborns and young infants
MIDD
Mitochondrial inheritance - deafness precedes diabetes
Affects organs where cells are most active - pancreas and cochlea
What is MODY?
Maturity onset diabetes of the young - type of t2d
Sx have slow onset, there is no obesity/ketosis/B cell autoimmunity
Autosomal dominant inheritance pattern
MODY 1
HNF4A regulates other body genes
A defective HNF4A means there is reduced insulin production from the pancreas
Increasing age = increasing need for treatment
MODY 2
Change in GCK-MODY (glucose sensor gene) means the blood glucose is reset at a higher level than normally
Sx: asymptomatic
Usually no treatment etc
MODY 3
HNF1A lowers pancreatic insulin production
Insulin is made normally in childhood but decreases as you age
MODY 5
renal cysts and diabetes
Multisystem disorer
Sx include kidney issues
Treatment for MODY 1 and 3
First line is low dose sulfonylureas to increase insulin
Sulfonylureas can cause hypoglycaemia which may limit use in some patients
Treatment for MODY 5
Some pt respond to sulfonylureas but most need insulin therapy
genetic mutations in neonatal diabetes
ABCC8 and KCNJII - they regulate the K+ channels. When these mutate, the channels are occluded = depolarisation ad Ca2+ influx = insulin production
