MODY- Monogenic Diabetes

Question 1

define

Answer 1

this is maturity onset diabetes of the young

Question 2

different types of AD mutations that cause this

Answer 2

glucokinase
transcription factors
KATP channel

Question 3

is MODY insulin dependent

Answer 3

no

Question 4

age of onset?

Answer 4

usually before 25

Question 5

is family history usually present?

Answer 5

yes

Question 6

role of glucokinase

Answer 6

pancreatic glucose sensor which phosphorylates glucose to glucose-6-phosphate in glycolysis

Question 7

presentation of glucokinase mutated MODY

Answer 7

hyperglycaemia from birth
fasting blood glucose level is high (7mmol/L not 5)
stable hyperglycaemia as the body is able to adapt

Question 8

management of glucokinase MODY

Answer 8

diet

Question 9

are complications common in glucokinase MODY

Answer 9

no

Question 10

transcriptor factor mutations

Answer 10

HNF-1alpha, HNF-1beta and HNF-4alpha

Question 11

presentation of transcription factor MODY

Answer 11

blood glucose normal at birth, but progressive hyperglycaemia at adolescence/young adulthood

Question 12

management of transcription factor MODY

Answer 12

diet
medication (SUs bind to KATP channel and bypasses defects in GLUT2, L-PK and mitochondria to secrete insulin)
insulin

Question 13

are complications common in transcription factor MODY?

Answer 13

yes

Question 14

what does neonatal diabetes require?

Answer 14

insulin within the first 3 months of life

Question 15

mutations in neonatal diabetes

Answer 15

Kir6.2 and SUR1

Question 16

what management does neonatal diabetes respond better to?

Answer 16

SUs

Question 17

two types of neonatal diabetes

Answer 17

transient

permanent

Question 18

describe transient neonatal diabetes

Answer 18

diagnosed <1 week and resolves around 12 weeks (insulin stopped)

Question 19

describe permanent neonatal diabetes

Answer 19

diagnosed 0-6 weeks and lifelong insulin required

Question 20

other conditions with diabetes

Answer 20

LADA
CF
Wolfram syndrome
Bardet-Biedl syndrome
Coeliac's disease
thyroid disease