MODY

Question 1

What is MODY

Answer 1

Autosomal dominant MONOGENIC form of non-ketotic, non-insulin dependent diabetes resulting from beta cell dysfunction + impaired insulin secretion

Question 2

Diagnosis of MODY

Answer 2

Autoantibody negative, C-peptide positive

Question 3

Epidemiology of MODY

Answer 3

Onset before age 25

Question 4

What is the most common type of MODY

Answer 4

HNF1A (MODY 3)

Question 5

Pathogenesis of HNF1A

Answer 5

Mutation on chromosome 12 for transcription factor HNF1A needed for beta cell differentiation, resulting in impaired beta cell function + a low threshold for glucose in the renal system causing increased excretion + glycosuria

Question 6

Symptoms of HNF1A

Answer 6

Severe hyperglycaemia after puberty

Question 7

Diagnosis of HNF1A

Answer 7

Low reactive C protein

Question 8

Treatment of HNF1A

Answer 8

Sulphonylureas- Gliclazide 40mg OD

Question 9

Pathogenesis of MODY 2

Answer 9

Glucokinase converts glucose to G-6-P (acts as a glucose sensor in the pancreatic beta cells), mutation results in a raised threshold for glucose stimulates insulin secretion

Question 10

Treatment of MODY 2

Answer 10

Controlled by diet, complications rare

Question 11

What is HNF1B associated with

Answer 11

Associated with pancreatic atrophy, renal abnormalities, and genital tract malformations