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

Flashcards in 7: MODY Deck (19)
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1

What are two types of monogenic diabetes?

MODY

Neonatal diabetes

2

People with monogenic diabetes are commonly misdiagnosed with what?

Type 1 and 2 diabetes

3

MODY is autosomal (dominant / recessive).

autosomal dominant

4

Do people with MODY require insulin?

No, not the same as Type 1 diabetes

5

The gene for which enzyme commonly mutates in MODY?

Glucokinase

6

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

HNF-alpha

7

What are the most common types of MODY?

Glucokinase mutation

MODY1

MODY2

8

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

set point

of blood glucose concentration

9

Is glucokinase-related MODY a progressive condition?

No

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

10

Are MODY1 and 2 progressive conditions?

Yes

11

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

Oral glucose tolerance test

12

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

7 mmol/L

13

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

progressive disease

drugs and insulin

14

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

GLUT2 transporter

Glucose transport

Mitochondrial metabolism

15

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

K+ channel not affected

16

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

Neonatal diabetes

17

Neonatal diabetes can be ___ or ___.

transient

permanent

18

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

K+ channel

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

19

How is neonatal diabetes treated?

Sulphonylurea