MODY and diabetes in those under 30

Question 1

What is MODY?

• what is the inheritance pattern?
• is it insulin dependant?
• what is the age of onset?
• what are the two distinct phenotypes?

Answer 1

maturity onset diabetes of the young
-inheritance pattern autosomal dominant
-non-insulin dependant
-age onset <25yrs
-2 distinct phenotypes: glucokinase mutations vs transcription factor mutations
(autoantibody negative)

Question 2

Describe the differences between glucokinase mutations and transcription factor mutations in MODY?

• age onset
• is it progressive or stable
• what is the treatment
• are complications frequent or rare?

Answer 2

Glucokinase mutations:

• onset at birth
• stable hyperglycaemia
• diet treatment
• complications rare

Transcription factor mutations:

• onset at adolescence/young adult
• progressive hyperglycaemia
• 1/3 diet 1/3 OHA 1/3 insulin treatment
• complications frequent

Question 3

Neonatal diabetes

• what is this?
• what is the difference between transient neonatal diabetes and permenant neonatal diabetes

Answer 3

Requires insulin treatment within the first 3 months of life

TNDM:
-DM diagnostic <1wk, resolves in median 12wks, stop insulin

PNDM:
-DM diagnostic 0-6wks, lifelong insulin

Question 4

What is LADA?

Answer 4

late onset diabetes of adulthood
AKA slowly progressive type 1 DM
-diagnosed by presence of elevated levels pancreatic autoantibodies in pts with recently diagnosed diabetes ho do not initially require insulin

Question 5

What are the features of LADA:

• age onset
• males or females
• obese or non-obese?
• what is it assoc. with?
• treatment?

Answer 5

• 25-40yrs
• non-obese males
• auto-antibody positive and is assoc. with other autoimmune conditions
• non-insulin requiring at diagnosis
• sub-optimal control on oral agents

Question 6

CF:

• what type of diabetes do CF patients suffer from?
• is it common?
• what is the preferred therapy?
• is this screened for?

Answer 6

Type 1 
>25% at 20yrs
insulin therapy preferred
prone to complications
screen with OGTT from 10 yrs old

Question 7

what is DIDMOAD or wolfram syndrome?

Answer 7

diabetes insipidus, DM, optic atrophy, deafness

- endoplasmic reticulum dysfunction

Question 8

What is bardet biedl syndrome?

Answer 8

• ciliapathic human genetic disorder (abnormally functioning cilia)
• often v obese, polydactylyl, hypogonadal, visual impairment, hearing impairment, mental retardation, diabetes, consanguinous parents