T1DM and MODY (incomplete)

Question 1

What is MODY?

Answer 1

Maturity-Onset Diabetes of the Young
Autosomal dominant inheritance that causes impairment of insulin secretion

Question 2

What are the two most common genetic mutations that cause MODY?

Answer 2

MODY2 (GCK mutation)
MODY3 (HNF1A mutation)

Question 3

What percentage of T1DM does MODY2 and MODY3 account for, respectively?

Answer 3

60% MODY3
20% MODY2

Question 4

What is the difference in presentation with MODY compared to T1DM and T2DM?

Answer 4

T1DM - Do not present in DKA (unless severe stress conditions)
T2DM - normal weight and do not exhibit signs of insulin resistance

Question 5

What are the specific clinical manifestations for MODY2 and MODY3?

Answer 5

MODY2 - mild, stable fasting hyperglycaemia and rarely cause severe complications
MODY3 (+MODY1) - progressive hyperglcyaemia and higher risk for diabetic complications (retinopathy, nephropathy and CVD)

Question 6

When is MODY suspected?

Answer 6

In individuals with persistent, asymptomatic hyperglycaemia detected under the age of 25 years.

Question 7

How is MODY confirmed?

Answer 7

Genetic testing - the type of MODY has implications for the management of MODY

Question 8

How is MODY2 treated?

Answer 8

Since is causes mild hyperglycaemia with usually no complications, it does not require specific treatment

Question 9

How is MODY associated with HNF1A, treated?

Answer 9

Usually responds well to low-dose sulfonyureas

Question 10

What is T1DM?

Answer 10

Chronic autoimmune disease where immune-mediated destruction of insulin-producing pancreatic beta cells occurs which causes an absolute insulin deficiency > hyperglycaemia