Other Types of Diabetes

Question 1

MODY is most likely to be diagnosed as what other type of diabetes?

Answer 1

Type 1

Question 2

Where is the defect in MODY?

Answer 2

The pancreatic beta cell (primarily insulin secretion)

Question 3

Is there a family history in MODY?

Answer 3

Very strong (usually 3 generations)

Question 4

How is MODY inherited?

Answer 4

Autosomal dominant

Question 5

Is MODY insulin dependent?

Answer 5

No

Question 6

What is the age of onset in MODY?

Answer 6

Usually < 25

Question 7

What is the most common type of MODY?

Answer 7

Transcription factor defects

Question 8

What is MODYX?

Answer 8

When you are convinced a patient has MODY but there is no genetic cause

Question 9

What is MODY2?

Answer 9

Problem with the glucokinase enzyme

Question 10

What transcription factors are most commonly defective in MODY?

Answer 10

HNF1 alpha (MODY3), HNF4 alpha (MODY1)

Question 11

Is MODY polygenic or monogenic?

Answer 11

Monogenic

Question 12

What is the difference in the times of onset of glucokinase MODY and transcription factor MODY?

Answer 12

Glucokinase = from birth // Transcription factor = adolescence/early adulthood

Question 13

Which type of MODY has progressive hyperglycaemia?

Answer 13

Transcription factor (glucokinase is stable)

Question 14

What is the treatment for glucokinase MODY?

Answer 14

Diet control

Question 15

What treatment options are there for transcription factor MODY?

Answer 15

Diet control, oral hypoglycaemic (sulphnylurea), insulin

Question 16

In which type of MODY are complications more likely to occur?

Answer 16

Transcription factor

Question 17

Glucokinase MODY can give a slightly raised HbA1c- when is this relevant?

Answer 17

Pregnancy

Question 18

What is a good test to tell MODY from type 1 diabetes?

Answer 18

C-peptide

Question 19

Will patients with MODY have C-peptide?

Answer 19

Yes (insulin is produced, it is not secreted so well)

Question 20

MODY is a glucose sensing defect, what does this mean?

Answer 20

The blood glucose threshold for insulin is increased // normal BG will always be raised in MODY

Question 21

What is the role of glucokinase?

Answer 21

Glucose –> Glucose-1-phosphate

Question 22

Patients with mutations in glucokinase (glucokinase MODY) will have abnormal function of what?

Answer 22

GLUT2 transporter

Question 23

What is the normal blood glucose for someone with MODY?

Answer 23

7mmol/l (around 5 is normal)

Question 24

HNF, which is implicated in transcription factor MODY, is important for what?

Answer 24

Pancreatic foetal development and neogenesis // Regulate beta cell function- including GLU2 and insulin secretion

Question 25

Patients with transcription factor MODY are very receptive to treatment with what?

Answer 25

Sulphonylureas

Question 26

Children who are diagnosed with diabetes aged < 6 months are most likely to have what?

Answer 26

MODY

Question 27

What is transient neonatal diabetes?

Answer 27

Usually diagnosed < 1 week and is not permanent

Question 28

What is permanent neonatal diabetes?

Answer 28

Appears within the first 6 months of life and stays

Question 29

Patients with permanent neonatal diabetes are insensitive to what? Why?

Answer 29

ATP- there are mutations in the K+ channel

Question 30

What is the effect of the K+ channel being unable to shut in permanent neonatal diabetes?

Answer 30

No insulin is produced

Question 31

What is used as treatment for neonatal diabetes?

Answer 31

Sulphonylureas

Question 32

How is a diagnose of LADA established?

Answer 32

Presence of elevated pancreatic auto-antibodies // Do not require insulin at diagnosis

Question 33

When does LADA usually present?

Answer 33

25-40

Question 34

Which sex is LADA more common in? Are individuals usually overweight?

Answer 34

Male // Not necessarily overweight

Question 35

What is LADA often associated with?

Answer 35

Other autoimmune conditions

Question 36

What is gestational diabetes?

Answer 36

When diabetes develops in pregnancy and resolves post-natally

Question 37

There is an increased risk of what with gestational diabetes?

Answer 37

Type 2 diabetes in the future

Question 38

When during pregnancy is gestational diabetes most common?

Answer 38

Third trimester

Question 39

What is the reason for gestational diabetes?

Answer 39

Pregnancy hormones decrease the action of insulin at its receptors (insulin resistance)

Question 40

How does drug related diabetes occur?

Answer 40

Some medications will increase BG and this leads to insulin resistance

Question 41

In what condition do more than 25% of patients have diabetes aged 20 years?

Answer 41

CF

Question 42

When does screening for diabetes begin in CF? Which types of CF are most likely to cause diabetes?

Answer 42

Aged 10 // Those with more severe mutations

Question 43

What is the preferred treatment for diabetes in CF?

Answer 43

Insulin

Question 44

How is Wolfram Syndrome inherited?

Answer 44

Autosomal recessive

Question 45

What conditions does Wolfram Syndrome consist of?

Answer 45

DM, DI, optic atrophy, deafness, neurological abnormalities

Question 46

How is Barder-Biedl Syndrome inherited?

Answer 46

Autosomal recessive

Question 47

How do patients with Barder-Biedl Syndrome look?

Answer 47

Very obese

Question 48

What conditions are associated with Barder-Biedl Syndrome?

Answer 48

Diabetes, mental retardation, hearing and visual impairment, hypogonadism, polydactyly

Question 49

Who does Barder-Biedl Syndrome occur in?

Answer 49

Children whose parents are related