MODY Flashcards
What is the inheritance of MODY?
Autosomal dominant
Is MODY insulin dependent?
No = non-insulin dependent diabetes
When does MODY usually present?
Before age 25
What mutations are associated with MODY?
14% in glucokinase
75% in transcription factors = HNF1 alpha and beta, HNF4 alpha
11% in MODY x
What are the two distinct types of MODY phenotypes?
Transcription factors (HNF1 alpha) and glucokinase
What are the features of glucokinase associated MODY?
Onset at birth, stable hyperglycaemia, diet treatment, complications rare, no need for insulin
What are the features of transcription factor associated MODY?
Adolescent/young adult onset, progressive hyperglycaemia, complications frequent
How can transcription factor associated MODY be treated?
1/3 diet, 1/3 OHA, 1/3 insulin
Sensitive to sulphonylurea
What should be measured as standard in all patients who appear to have type 1 diabetes?
C-peptide
What treatment does neonatal diabetes require?
Insulin treatment within the first three months of life
What are the two kinds of neonatal diabetes?
Transient neonatal diabetes (TNDM) and permanent neonatal diabetes (PNDM)
What are some features of transient neonatal diabetes?
Usually diagnosed < 1 week, resolves in about 12 weeks, stop insulin once it’s cleared
What are some features of permanent neonatal diabetes?
Usually diagnosed 0-6 weeks, lifelong treatment with insulin
How is sulphonylurea affective in permanent neonatal diabetes?
Close KATP channel = membrane depolarised, calcium influx, insulin secretion
Glycaemic control improved in all patients
