inherited diabetes

Question 1

there are two types of diabetes monogenic and polygenic diabetes. polygenic DM include T1 , T2 and gestational diabetes what does monogenic diabetes include

Answer 1

MODY
neonatal
MIDD

T1 and T2 are more common in identical twins

Question 2

type 1 is autoimmune destruction of the beta cells triggered by

Answer 2

the cold
enteroviruses espceilaly cosaackie B virus
infant nutrition - insufficient breast feeding

HLA class 2

lifelong injections

Question 3

t2DM is caused by relative impaired insulin secretion and peripheral insulin resistance leaving high glucose level in blood. RF

Answer 3

envrionemtnal
obesity
sedentary lifestyle

genes most prominent being PPARy , ABCC8

Question 4

gestational diabetes is the most common medical disorder in pregnancy what are the treatments and when does it go away

Answer 4

it goes away after giving birth and treatment is in the form of tablets such at metformin or insulin injection

Question 5

MODY - maturity onset diabetes of the young what is it characterised by slow onset symptoms
absence of obesity, no ketosis and no evidence of beta cell autoimmunity

presents before age 25
no type2 risk factors

what type of inheritance

Answer 5

autosomal dominant inheritance

Question 6

most common types of MODY

Answer 6

GCK-MODY -2
and HNFIA -MODY -3

HNF4A-MODY -1 and HNFIB-MODY - 5

Question 7

MODY 1 is when this gene turns off and on in the body - reduced insulin production

MODY 2 is a glucose sensor gene and this causes glucose levels to be

Answer 7

reset at a higher level - 5.5-5.8 normal person is below 5.5

aysmptomatic
only small glucose rise post prandially

retinopathy and pregame

Question 8

MODY 3 turns off and on others lowering the amount of insulin produced by the pancreas - childhood with high penetrance

MODY 5 RCAD syndrome - renal cysts an diabetes features

Answer 8

• Unexplained renal cystic diseas e
• Renal cysts may be detected in utero
• Single kidney
• Early onset non insulin depent diabete s
• Gential tract malformations
• Hyperuricaemia
• And early onset gout
• Hypomagnesaemia
• Abnroaml liver function tests
• Pancreatic exocrine deficiency
• Neyrodevelopmenttal disorders inclduign autism spectirum disorder

Question 9

treatment for MODY 3and5

and treatment for 1 and 2

Answer 9

3and1 is low dose sulfonylureas

2 is no treatment required

5 is insulin

Question 10

when does neonatal diabetes occur

Answer 10

first 6 months of life

Question 11

2 types of neonatal diabetes

Answer 11

transient - resolves before 12 months but can reoccur

permanent

Question 12

features of neonatal diabetes

Answer 12

Frequent urination 
Rapid breathing 
Dehydration 
Glucose in urine 
Ketosis 
IUGR 
Developmental delay 
Clinical picture depends on which gen mutation is present 

ABCC8

Question 13

treatment of neonatal diabetes

Answer 13

genetic testing as well then glibenclamide

Question 14

MIDD - maternal inherited diabetes and deafness

Answer 14

mutation in mitochondrial DNA
passes to all children
pancreas and cochlea and sometime retina, muscles and kidneys and brain

middle aged 11-68

hearing loss present before diabetes

not metformin as interferes with mito function
insulin therapy needed

Question 15

when is genetic testing recommended

Answer 15

Diabetic diagnosed within first 6 months of age
Diabetes is diagnosed in children and young adults, with strong FH who do not have typical features of type 1 or 2 such as autoantibodies , obesity and other metabolic features
A person has stabile mild fasting hyperglycaemia especially if obesity not present