Neonatal Diabetes Flashcards
Preterm is when a baby is born prior to 37 weeks. Is neonatal diabetes more common in preterm or full term babies?
- preterm
How common is hyperglycaemis in the neonatal period (1st 28 days from birth)?
1 - 1-2%
2 - 10-12%
3 - 25-75%
4 - 100%
3 - 25-75%
- can be a normal physiological response in 1st 3-5 days following birth
- normally resolves in a few days
What is often the most common cause of hyperglycaemia in the neonatal period (1st 28 days from birth)?
1 - gestational diabetes
2 - neonatal diabetes
3 - malignancy
4 - delivery complication
2 - neonatal diabetes
- need to be distinguished from other causes though to confirm diagnosis
Is mongenic diabetes caused by one or more genetic defect?
- one
- hence mono
What % of the diabetes population does monogenic diabetes account for?
1 - >50%
2 - 10-20%
3 - 10%
4 - 1-5%
4 - 1-5%
Patients with monogenic diabetes typically present in which 2 of the following?
1 - neonatal diabetes
2 - Maturity onset diabetes of the young (MODY)
3 - T2DM
4 - T1DM
1 - neonatal diabetes
- diagnosed in newborns and infants)
2 - Maturity onset diabetes of the young (MODY)
How common is neonatal diabetes?
1 - 1 / 100
2 - 1 / 1000
3 - 1 / 10,000
4 - 1 / 100,000
4 - 1 / 100,000
- diagnosis = severe hyperglycaemia in the neonatal period lasting at least two weeks that requires insulin management
What age is neonatal diabetes typically diagnosed?
1 - <6 days
2 - <6 months
3 - <6 years
4 - <10 years
2 - <6 months
Neonatal diabetes is typically diagnosed <6 months from birth. Is this always permanent?
- no
- can be permanent, transient or syndromic
Neonatal diabetes is a relatively rare condition, which typically presents as neonates having severe hyperglycaemia in the neonatal period lasting at least two weeks, and requiring insulin therapy to control blood glucose. Is there any autoimmunity involved here?
- no
Maturity onset diabetes of the young (MODY) is an inability of the body to produce sufficient insulin. What age is this diagnosed?
1 <6 months
2 - >6 months but <25 y/o
3 - >25 y/o
4 - any age
2 - >6 months but <25 y/o
- small family history hereditary 2%
There is a large genetic heterogeneity of clinically defined Maturity onset diabetes of the young (MODY). All of the following are causes, but which is by far the most common?
1 - insulin gene deficiency
2 - glucokinase deficiency
3 - transcription factors
4 - CEL gene deficiency
3 - transcription factors
- accounts for 66% of MODY cases
- Hepatic Nuclear Factor 1 Alpha (HNF1A) is the most common
Which of the following are risk factors for screening patients who may have Maturity onset diabetes of the young (MODY)?
1 - Family history of diabetes diagnosed at a young age (<30 years old)
2 - diagnosed <1 year old, especially <6 months old
3 - negative diabetes antibody results
4 - persistently detectable C-peptide many years after diagnosis
5 - chronic mildly elevated fasting blood sugars
6 - all of the above
6 - all of the above
Glucokinase is an enzyme responsible for what?
1 - gluconeogenesis
2 - glycogenesis
3 - glycolysis
4 - ketonsis
3 - glycolysis
- phosphorylation of 6 carbon glucose molecule (essentially add a phosphate)
- glucose can then not leave the cell
- glucose become glucose-6-phosphate
Glucokinase is an enzyme involved in glycolysis. This enzyme phosphorylates the glucose 6 carbon glucose molecule (essentially add a phosphate). The glucose cannot leave the cell and becomes glucose-6-phosphate. Is Glucokinase found in all cells?
- no typically liver and beta cells
- needs to be induced by insulin