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Flashcards in MODY Deck (25)
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1

What does MODY stand for?

Maturity Onset Diabetes of the Young

2

What are the most common types of MODY?

  1. Glucokinase mutation MODY
  2. Transcription factor MODY
  3. MODY X

3

What is glucokinase and what does it do?

Enzyme

Phosphorylates glucose to glucose-1-phosphate

4

Why is a mutation in the glucokinase gene an issue for people with MODY?

Abnormal GLUT2 function and glucokinase is less responsive to glucose

5

GCK-MODY is a progressive condition

True or false?

False

It is non-progressive

6

Transcription factor MODY most commonly affects which genes?

  1. HNF1A
  2. HNF4A
  3. HNF1B (rarer)

7

What is MODY X?

MODY with no proven/provable cause

8

Transcription factor MODY is progressive

True or False?

True

It is a progressive condition

9

Generally patients with MODY require insulin

True or false?

False

Although they may require it later on in life

10

How do patients with MODY generally present?

  1. Strong family history of diabetes
  2. Onset of diabetes in the 2nd to 5th decade
  3. Insulin independence
  4. Absence of B cell autoimmunity
  5. Absence of insulin resistance features

11

What are the key signs of insulin resistance?

  1. Acanthosis nigricans
  2. Abnormal fat distribution
  3. Central obesity
  4. Dyslipidaemia (abnormal fat (triglycerides or LDL) in the blood)

12

Patients with GCK-MODY have a _________ threshold for the initiation of glucose stimulated insulin secretion

Patients with GCK-MODY have a raised threshold for the initiation of glucose stimulated insulin secretion

13

Due to having a raised threshold for insulin secretion, patients with GCK-MODY have a lifelong what?

Mild, stable hyperglycaemia

14

How will a patient's blood sugar levels change if they have GCK-MODY?

Low rise

15

What are patients with HNF1A and HNF4A mutations at risk of?

Microvascular and macrovascular consequences of diabetes

16

What is MODY often diagnosed as?

Type 1 diabetes

17

If a patient is misdiagnosed with type 1 diabetes, yet actually has MODY, how may this be shown after 3-5 years post-diagnosis?

  1. Continued endogenous insulin secretion
  2. Persistent C-peptide
  3. No tendency to ketoacidosis

18

How can C-peptide be measured?

Urine or blood

Urine is easier as the C-peptide to creatinine ratio can be measured

19

Usually patients with MODY do not have which characteristic thing of type 1 diabetes?

Pancreatic autoantibodies

20

What is the first line treatment for HNF1A and HNF4A MODY?

Sulphonyureas

(low doses, these agents are very effective in this type of MODY)

21

What is the first line treatment for GCK-MODY?

Nothing

22

In children with severe hyperglycaemia what treatment is given?

Insulin

This is the safest thing to do, despite there being a chance the child has MODY

23

If a pregnant women has asymptomatic hyperglycaemia secondary to GCK-MODY, what man she present with?

Gestational diabetes

24

What is the treatment for a pregant woman with GCK-MODY?

Insulin

(if there are signs foetal development may be impacted)

25

What is the first line treatment for a pregant woman with HNF1A/HNF4A MODY?

Glibenclamide (a sulphonyurea)