7: MODY Flashcards Preview

Endocrine Week 2 2017/18 > 7: MODY > Flashcards

Flashcards in 7: MODY Deck (19)
Loading flashcards...
1
Q

What are two types of monogenic diabetes?

A

MODY

Neonatal diabetes

2
Q

People with monogenic diabetes are commonly misdiagnosed with what?

A

Type 1 and 2 diabetes

3
Q

MODY is autosomal (dominant / recessive).

A

autosomal dominant

4
Q

Do people with MODY require insulin?

A

No, not the same as Type 1 diabetes

5
Q

The gene for which enzyme commonly mutates in MODY?

A

Glucokinase

6
Q

People with MODY1, MODY2 etcetera have mutations of which transcription factors?

A

HNF-alpha

7
Q

What are the most common types of MODY?

A

Glucokinase mutation

MODY1

MODY2

8
Q

Glucokinase mutations alter the __ __ at which insulin is secreted.

A

set point

of blood glucose concentration

9
Q

Is glucokinase-related MODY a progressive condition?

A

No

it never gets any worse as the set point shift doesn’t change

10
Q

Are MODY1 and 2 progressive conditions?

A

Yes

11
Q

What test can be used to tell glucokinase mutations apart from HNF mutations?

A

Oral glucose tolerance test

12
Q

Glucokinase mutations are diagnosed as diabetes because the fasting glucose concentration is more than _ mmol/L.

A

7 mmol/L

13
Q

In contrast to glucokinase mutations, HNF mutations cause ___ disease requiring treatment with ___ and insulin.

A

progressive disease

drugs and insulin

14
Q

HNF1-alpha mutations affect what aspects of a beta cell?

A

GLUT2 transporter

Glucose transport

Mitochondrial metabolism

15
Q

Why are patients with HNF1-alpha mutations sensitive to sulphonylurea treatment?

A

K+ channel not affected

16
Q

Which type of monogenic diabetes presents between 3 and 6 months of age?

A

Neonatal diabetes

17
Q

Neonatal diabetes can be ___ or ___.

A

transient

permanent

18
Q

Which aspect of a beta cell is faulty in neonatal diabetes?

A

K+ channel

So patient is insensitive to ATP - doesn’t close channel, independent of glucose presence

19
Q

How is neonatal diabetes treated?

A

Sulphonylurea