302 Discovering, describing and treating monogenic forms of diabetes Flashcards
What is Maturity-onset diabetes of the young (MODY)?
Caused by a single gene defect in beta-cell function
Early diagnosis of diabetes (<25)
Non insulin-dependent diabetes
What is Glucokinase-MODY?
It’s the most common subtype of MODY
Caused by a glucokinase gene mutation
What are the clinical features of GCK-MODY?
Asymptomatic
Lifelong mild stable fasting hyperglycaemia
HbA1c: 38 - 60 mmol/mol
Not progressive
Complications rare
Treatment unnecessary (+ ineffective)
Active management in pregnancy
What is the management of GCK-MODY in pregnancy?
If fetus inherits the mutation then no treatment is needed.
Consider insulin to prevent macrosomia if the disease isn’t inherited
What is macrosomia?
A larger baby
What is HNF1A/4A?
Hepatic nuclear factor 4 alpha
NF1/4A patients respond better to Gliclazide than Type 2 diabetes patients
What are the key characteristics of MODY?
-Autosomal dominant family history
-Non-insulin dependence
-Young age of onset (<25)
-Non-obese
-No ketoacidosis
-Sulphonylurea sensitivity
-C-peptide positive
What is C peptide in diabetes?
C-peptide level is based on blood sugar level.
A low level (or no C-peptide) indicates that your pancreas is producing little or no insulin
What is the treatment of HNF1A/4A diabetes?
-Diet: May be effective initially
-Low dose sulphonylureas
-Then other medications – metformin; GLP1RA
Progress on to insulin
What are some clues that there may be an HNF4A mutation?
-History of macrosomia in the family
-History of neonatal hypoglycaemia in the family
-With a 2+ generation history of diabetes
What is neonatal diabetes?
Refers to all diabetes diagnosed less that 6 months of age
