Other Types of Diabetes Flashcards
MODY is most likely to be diagnosed as what other type of diabetes?
Type 1
Where is the defect in MODY?
The pancreatic beta cell (primarily insulin secretion)
Is there a family history in MODY?
Very strong (usually 3 generations)
How is MODY inherited?
Autosomal dominant
Is MODY insulin dependent?
No
What is the age of onset in MODY?
Usually < 25
What is the most common type of MODY?
Transcription factor defects
What is MODYX?
When you are convinced a patient has MODY but there is no genetic cause
What is MODY2?
Problem with the glucokinase enzyme
What transcription factors are most commonly defective in MODY?
HNF1 alpha (MODY3), HNF4 alpha (MODY1)
Is MODY polygenic or monogenic?
Monogenic
What is the difference in the times of onset of glucokinase MODY and transcription factor MODY?
Glucokinase = from birth // Transcription factor = adolescence/early adulthood
Which type of MODY has progressive hyperglycaemia?
Transcription factor (glucokinase is stable)
What is the treatment for glucokinase MODY?
Diet control
What treatment options are there for transcription factor MODY?
Diet control, oral hypoglycaemic (sulphnylurea), insulin
In which type of MODY are complications more likely to occur?
Transcription factor
Glucokinase MODY can give a slightly raised HbA1c- when is this relevant?
Pregnancy
What is a good test to tell MODY from type 1 diabetes?
C-peptide
Will patients with MODY have C-peptide?
Yes (insulin is produced, it is not secreted so well)
MODY is a glucose sensing defect, what does this mean?
The blood glucose threshold for insulin is increased // normal BG will always be raised in MODY
What is the role of glucokinase?
Glucose –> Glucose-1-phosphate
Patients with mutations in glucokinase (glucokinase MODY) will have abnormal function of what?
GLUT2 transporter
What is the normal blood glucose for someone with MODY?
7mmol/l (around 5 is normal)
HNF, which is implicated in transcription factor MODY, is important for what?
Pancreatic foetal development and neogenesis // Regulate beta cell function- including GLU2 and insulin secretion
Patients with transcription factor MODY are very receptive to treatment with what?
Sulphonylureas
Children who are diagnosed with diabetes aged < 6 months are most likely to have what?
MODY
What is transient neonatal diabetes?
Usually diagnosed < 1 week and is not permanent
What is permanent neonatal diabetes?
Appears within the first 6 months of life and stays
Patients with permanent neonatal diabetes are insensitive to what? Why?
ATP- there are mutations in the K+ channel
What is the effect of the K+ channel being unable to shut in permanent neonatal diabetes?
No insulin is produced
What is used as treatment for neonatal diabetes?
Sulphonylureas
How is a diagnose of LADA established?
Presence of elevated pancreatic auto-antibodies // Do not require insulin at diagnosis
When does LADA usually present?
25-40
Which sex is LADA more common in? Are individuals usually overweight?
Male // Not necessarily overweight
What is LADA often associated with?
Other autoimmune conditions
What is gestational diabetes?
When diabetes develops in pregnancy and resolves post-natally
There is an increased risk of what with gestational diabetes?
Type 2 diabetes in the future
When during pregnancy is gestational diabetes most common?
Third trimester
What is the reason for gestational diabetes?
Pregnancy hormones decrease the action of insulin at its receptors (insulin resistance)
How does drug related diabetes occur?
Some medications will increase BG and this leads to insulin resistance
In what condition do more than 25% of patients have diabetes aged 20 years?
CF
When does screening for diabetes begin in CF? Which types of CF are most likely to cause diabetes?
Aged 10 // Those with more severe mutations
What is the preferred treatment for diabetes in CF?
Insulin
How is Wolfram Syndrome inherited?
Autosomal recessive
What conditions does Wolfram Syndrome consist of?
DM, DI, optic atrophy, deafness, neurological abnormalities
How is Barder-Biedl Syndrome inherited?
Autosomal recessive
How do patients with Barder-Biedl Syndrome look?
Very obese
What conditions are associated with Barder-Biedl Syndrome?
Diabetes, mental retardation, hearing and visual impairment, hypogonadism, polydactyly
Who does Barder-Biedl Syndrome occur in?
Children whose parents are related
