Endocrine Flashcards
What year was insulin isolated as a treatment for diabetes?
1921
4 hormones that increase during fasting?
Glucagon, catecholamines, growth hormone, cortisol
Apart from type 1 and 2 diabetes what are 3 other causes that can induce diabetes?
secretory defects like CF, medication induced like steroids, endocrinopathies like phaemochromocytoma
What antibodies are usually present in type 1 diabetes?
pancreatic autoantibodies
What gene gives genetic susceptibility to developing type 1 diabetes?
HLA DR3/4
What random blood sugar and what fasting blood sugar are diagnostic of diabetes? OGTT?
Random above 11.1mmol/l
Fasting above 7 mmol/l
OGTT at 11.1 mmol/l after 2 hours
Type of breathing that can be seen in diabetics?
Kussmaul breathing (hyperventilation)
What symptoms of diabetes can you name?
Eyes - blurred vision CNS - polydipsia, polyuria, lethargy Breath smells of acetone Weight loss Gastric - nausea, vomit, abdominal pain Urine - polyuria, glycosuria
What OGTT result and fasting glucose result would indicate pre diabetic
OGTT between 7.8-11.1mmol/l after 2 hours
Fasting glucose between 5.6-6.9mmol/l
When counselling someone about diabetes, what lifestyle topics must you talk about?
Smoking, alcohol, holidays, drugs, driving, employment, pregnancy
Dietary advice to diabetics - how many portions of fruit/veg, dairy and protein per day?
fruit veg - 5 per day
dairy - 2 per day
protein - 2 per day
What 4 things are monitored yearly in diabetics?
Retinopathy, microalbuminuria, BP, foot exam
What can effect the injection site of diabetics?
Necrobiosis lipoidica
Define DKA in terms of blood glucose level and blood ph
glucose over 11mmol/l and ph below 7.3
What is the cause of death in DKA?
cerebral oedema
Management of DKA
Hourly obs, insulin, fluids, potassium
Is acanthosis nigrans more common in type 1 or 2 diabetics?
2
Mutations in which 2 areas can cause MODY
glucokinase mutations and transcription factor mutations
Glucokinase mutation MODy - onset? treatment? complications common?
onset at birth, dietary treatment, little complications
Transcription factor MODY - onset? treatment? complications common?
Onset in childhood, treated with combination therapy diet/counselling/insulin, frequent complications
3 retinal signs of microvascular complications of diabetes?
Neovascularisation, cotton wool spots, haemorrhages
How do you treat microalbuminaemia in diabetics?
ACEi
What is the major complication that can occur with IEM?
metabolic encephalopathy
Toxication IEM examples? when does it occur after birth usually? trigger? symptoms? in the A-b-c transition what is predominant issue?
Phenylalanine build up, urea cycle defects, ammonia clearance defect, occurs after feeding so 72 hours after birth usually, presenting with poor feeding/increasingly unwell/sweating/drowsy/encephalopathy, build up of B
Energy deficient state IEM:
In A-B-C transition what is the main issue?
4 main organs effected?
Symptoms appear when? take how long to cause issue?
Congenital lactic acidosis - 2 example defect?
Energy supply issues - 2 example defects?
Lack of C
lungs, heart, brain, liver
Symptoms appear sooner than intoxication IEM but more insidious onset
Congenital lactic acidosis - pyruvate metabolism issues, respiratory chain issues
Energy supply issues - fat oxidation defects, glycogen storage issues
Complex molecule disease IEM have a problem in what? What is issue in A-B-C transition?
Degrative enzymes or synthetic/processing enzymes
Problem is B isnt broken down
What is mucopolysaccharidosis? what type of IEM?
lysosomal disorder with build up of GAGs, complex molecule disease
Example of a syndrome which is a peroxisomal disorder? what type of IEM?
Zellweger Syndrome, complex molecule disease
Symptoms of Zellweger syndrome?
Dysmorphic features, broad fontanelle, floppy, seizures, liver problems, deafness
How do complex molecule IEM progress?
Irreversible constant progression independant of diet
How is complex molecule disease investigated and diagnosed?treated?
Molecular assays, substrates, enzyme assays
Need enzyme replacement and substrate reduction
What can IEM present as in utero?
Hydrops fetalis, IUD, coma, encephalopathy, abnormal fetal movement
If a child is dysmorphic at birth wtih IEM what type do they have
Complex molecule disorder- peroxisomal disease
What 2 IEM are screened for in newborns?
PKU, MCADD