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
Patients with Maturity onset diabetes of the young (MODY) caused by glucokinase deficiency typically present with all of the following, EXCEPT which one?
1 - Asymptomatic
2 - Lifelong mild stable fasting hyperglycaemia
3 - HbA1c: 38 - 60 mmol/mol
4 - Not progressive
5 - Complications rare
6 - Treatment unnecessary (+ ineffective)
Active management in pregnancy
3 - normal HbA1c
- typically is lies between 38-60
Do patients with Maturity onset diabetes of the young (MODY) caused by glucokinase deficiency have an increased risk of micro and macrovascular complications than T2DM or non-diabetic patients?
- no additional risks
- lower risks if anything
Hepatic Nuclear Factor 1 Alpha (HNF1A) is a relatively common form of Maturity onset diabetes of the young (MODY). How is this passed on?
1 - polygenic mutations
2 - autosomal dominant
3 - autosomal dominant
4 - x linked dominant
2 - autosomal dominant
- essentially not a sex chromosome
- need a mutation in one non-sex chromosome
Hepatic Nuclear Factor 1 Alpha (HNF1A) is a relatively common form of Maturity onset diabetes of the young (MODY) that is autosomal dominant. Do they produce insulin?
- yes
- can detect this measuing C-peptide
Hepatic Nuclear Factor 1 Alpha (HNF1A) is a relatively common form of Maturity onset diabetes of the young (MODY) that is autosomal dominant. What drug do these patients typically respond well to?
1 - metformin
2 - SGLT-2 inhibitors
3 - GLP- 1 agonist
4 - sulfonylureas
4 - sulfonylureas
Hepatic Nuclear Factor 1 Alpha (HNF1A) is a relatively common form of Maturity onset diabetes of the young (MODY) that is autosomal dominant. They do produce insulin, but does this continue into adult life beyond 25 y/o?
- no blood glucose rises with age
- likely to require more treatment as they age
In a patient with Hepatic Nuclear Factor 1 Alpha (HNF1A), a relatively common form of Maturity onset diabetes of the young (MODY) that is autosomal dominant. Organise the management of these patients in the correct order?
1 - insulin
2 - Low dose sulphonylureas
3 - Diet and lifestyle
4 - metformin or GLP1RA
3 - Diet and lifestyle
- may work initially
2 - Low dose sulphonylureas
4 - metformin or GLP1RA
1 - insulin
Hepatic Nuclear Factor 1 Beta (HNF1B) and renal cysts and diabetes, a relatively common form of Maturity onset diabetes of the young (MODY) that is autosomal dominant. Although these patients can present with lots of symptoms including all the ones below, what is the most common presentation?
1- renal abnormalities (renal cysts or renal structural abnormalities)
2 - hyperuricaemia and early onset gout
3 - hypomagnesaemia/Abnormal liver function tests
4 - autism spectrum disorder
5 - pancreatic exocrine deficiency
6 - neurodevelopmental disorders, including autism spectrum disorder
1- renal abnormalities (renal cysts or renal structural abnormalities)
