Endocrine Flashcards

1
Q

What year was insulin isolated as a treatment for diabetes?

A

1921

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2
Q

4 hormones that increase during fasting?

A

Glucagon, catecholamines, growth hormone, cortisol

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3
Q

Apart from type 1 and 2 diabetes what are 3 other causes that can induce diabetes?

A

secretory defects like CF, medication induced like steroids, endocrinopathies like phaemochromocytoma

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4
Q

What antibodies are usually present in type 1 diabetes?

A

pancreatic autoantibodies

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5
Q

What gene gives genetic susceptibility to developing type 1 diabetes?

A

HLA DR3/4

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6
Q

What random blood sugar and what fasting blood sugar are diagnostic of diabetes? OGTT?

A

Random above 11.1mmol/l
Fasting above 7 mmol/l
OGTT at 11.1 mmol/l after 2 hours

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7
Q

Type of breathing that can be seen in diabetics?

A

Kussmaul breathing (hyperventilation)

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8
Q

What symptoms of diabetes can you name?

A
Eyes - blurred vision
CNS - polydipsia, polyuria, lethargy
Breath smells of acetone
Weight loss
Gastric - nausea, vomit, abdominal pain
Urine - polyuria, glycosuria
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9
Q

What OGTT result and fasting glucose result would indicate pre diabetic

A

OGTT between 7.8-11.1mmol/l after 2 hours

Fasting glucose between 5.6-6.9mmol/l

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10
Q

When counselling someone about diabetes, what lifestyle topics must you talk about?

A

Smoking, alcohol, holidays, drugs, driving, employment, pregnancy

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11
Q

Dietary advice to diabetics - how many portions of fruit/veg, dairy and protein per day?

A

fruit veg - 5 per day
dairy - 2 per day
protein - 2 per day

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12
Q

What 4 things are monitored yearly in diabetics?

A

Retinopathy, microalbuminuria, BP, foot exam

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13
Q

What can effect the injection site of diabetics?

A

Necrobiosis lipoidica

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14
Q

Define DKA in terms of blood glucose level and blood ph

A

glucose over 11mmol/l and ph below 7.3

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15
Q

What is the cause of death in DKA?

A

cerebral oedema

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16
Q

Management of DKA

A

Hourly obs, insulin, fluids, potassium

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17
Q

Is acanthosis nigrans more common in type 1 or 2 diabetics?

A

2

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18
Q

Mutations in which 2 areas can cause MODY

A

glucokinase mutations and transcription factor mutations

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19
Q

Glucokinase mutation MODy - onset? treatment? complications common?

A

onset at birth, dietary treatment, little complications

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20
Q

Transcription factor MODY - onset? treatment? complications common?

A

Onset in childhood, treated with combination therapy diet/counselling/insulin, frequent complications

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21
Q

3 retinal signs of microvascular complications of diabetes?

A

Neovascularisation, cotton wool spots, haemorrhages

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22
Q

How do you treat microalbuminaemia in diabetics?

A

ACEi

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23
Q

What is the major complication that can occur with IEM?

A

metabolic encephalopathy

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24
Q

Toxication IEM examples? when does it occur after birth usually? trigger? symptoms? in the A-b-c transition what is predominant issue?

A

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

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25
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
26
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
27
What is mucopolysaccharidosis? what type of IEM?
lysosomal disorder with build up of GAGs, complex molecule disease
28
Example of a syndrome which is a peroxisomal disorder? what type of IEM?
Zellweger Syndrome, complex molecule disease
29
Symptoms of Zellweger syndrome?
Dysmorphic features, broad fontanelle, floppy, seizures, liver problems, deafness
30
How do complex molecule IEM progress?
Irreversible constant progression independant of diet
31
How is complex molecule disease investigated and diagnosed?treated?
Molecular assays, substrates, enzyme assays | Need enzyme replacement and substrate reduction
32
What can IEM present as in utero?
Hydrops fetalis, IUD, coma, encephalopathy, abnormal fetal movement
33
If a child is dysmorphic at birth wtih IEM what type do they have
Complex molecule disorder- peroxisomal disease
34
What 2 IEM are screened for in newborns?
PKU, MCADD
35
extended new born screening for IEM looks for what?
Homocystinuria, maple syrup urine disease
36
If a newborn is unwell after a duration of feeding what is most likely condition?
PKU
37
What does phenylalanine hydroxylase usually convert phenylalanine into?
Tyrosine
38
Management of PKU
Diet restricted for life
39
How do patients with PKU clinically look - 4 features?
Blonde hair, blue eyes, developmental delay, seizures
40
What is homocystinuria a deficiency of?
cystathionine synthase deficiency
41
Untreated homocystinuria can lead to what 4 things?
Ectopia lentis, osteoporosis, VTE, intellectual disability
42
Large doses of what treats half of patients who suffer with homocystinuria? If non responsive what must they take for life?
``` Coenzyme pyridoxine (Vit B6) Low methionine diet with cysteine and betaine supplements ```
43
2 main IEM that become apparent by diet?
PKU, homocystinuria
44
If a newborn presents with initial health followed by decline and hypoglycaemia what IEM are you thinking of?
Glycogen storage disease type 1, MCADD, organic acidaemias, fructose bisphosphatase deficiency, hyperinsulinaemia, adrenal insufficiency
45
If a newborn presents with initial health followed by decline and metabolic acidosis what IEM are you thinking of? (2)
organic acidaemia or congenital lactic acidosis (respiratory chain disorders, pyruvate metabolism disorder)
46
If a newborn presents with initial health followed by decline and respiratory alkalosis what IEM are you thinking of? (1)
hyperammonaemia disorders like urea cycle
47
If a newborn presents with initial health followed by decline and encephalopathy what IEM are you thinking of? (3)
Intoxication disorders, hyperammonaemia, maple syrup urine disease
48
If a newborn presents with initial health followed by decline and liver disease what IEM are you thinking of? (5)
Tyrosinaemia type 1, neonatal haemochromatosis, fatty oxidation disorders, mitchochondrial disorders, galactosaemia
49
What lysosomal disorder presents with cardiomyopathy?
Pompe disease
50
3 main IEM considerations for a newborn presenting with cardiomyopathy?
Mitochondrial disorders, fat oxidation disorders, Pompe disease
51
First line investigations for any sick infant?
FBP, U&E, LFT, CRP, lactic acid, CK, blood gas, glucose, ammonia, sepsis screen, ESR, blood culture
52
What 3 first line tests are important to investigate IEM?
Glucose, blood gas, ammonia
53
What second line tests can be done to identify a IEM?
Acylcarnitines, urine organic acid, urine AA, lysosomal enzymes,
54
What are 2 third line tests to confirm IEM?
enzymology and molecular genetics
55
Abnormal child presents days after birth, what 3 things are you considering?
Sepsis, tyrosinaemia, galactosaemia
56
Galactosaemia classically presents how?
Dont regain birth weight, second half of first week refuse to eat, vomit, jaundice, hepatomegaly, ascites, cataracts in days
57
Treatment for galactosaemia?
Restrict lactose and galactose
58
Treatment of a neonate with galactosaemia?
10% dextrose and soya feeds
59
What drug is given when there are high levels of ammonia?
Sodium benzoate
60
What is given when there are high levels of organic acids?
Carnitine
61
Differential diagnosis of polyuria and polydipsia?
``` DM Nephrogenic diabetes insipidus high output renal failure hypocalcaemia hypokalaemia Psychogenic polyuria in infants ```
62
2 electrolyte imbalances leading to polyuria and polydipsia?
hypocalcaemia | hypokalaemia
63
When taking a history to determine if a child has diabetes what questions do you need to ask?
Pain questions, eating, weight loss, drinking, bowels, UTI, nocturnal enuresis, vomit/colour, fever, diarrhoea
64
On examination of a child who potentially has diabetes what signs are you looking for?
Smell of ketones on breath, Kussmauls breathing, ABC, dehydration signs, abdominal tenderness, any sign of infection
65
Primary vs secondary enuresis, define
Primary is a child who has never been dry, secondary is a child who was dry for a number of years and has now begun to wet the bed again
66
3 main causes of secondary enuresis?
UTI, emotional stress, severe constipation
67
What synthetic ADH can be used in children temporarily to suppress enuresis?
Desmopressin
68
What level of ketones would have you worried about dka?
over 3mmol/l
69
If a child is in dka, what is the management plan? what is checked? what is maximum fluid bolus given and why?
IV access - check FBP/U&E/glucose/CRP/blood gas | Fluid replacement at 10ml/kg of 0.9% saline in DKA to reduce cerebral oedema
70
One out of dka with the saline bolus what is added into the proceeding fluids and why?
KCl with the saline as when insulin is added it drive K+ into the cells
71
What volume and concentration of KCl is added to fluids in order with dka?
20mmol/500mls
72
How do you work out the deficiency (in litres) of a childs fluid status?
Deficiency (in litres) = kg of child x % depleted
73
Fluid deficit is replaced over what time period in dka?
48 hours
74
How do you work out the hourly rate of fluid administration in a child with DKA fluid deficit?
Hourly rate = ((48 hour maintenance volume + deficit) - bolus resuscitation fluid give) / 48
75
Why is fluid resuscitation in DKA important to monitor closely?
Can cause cerebral oedema
76
www.dka-calculator.co.uk
www.dka-calculator.co.uk
77
Mode of administration of Actrapid and dosage in a child?
IV infusion at 0.1 units/kg/hour
78
In a child experiencing dka, how fast would you like insulin administration to lower their glucose levels?
5-8mmols/hour
79
Once a child originally in DKA has been given first 0.9% saline then added on 20mmol/500mls KCl and 0.1units/kg/hour insulin to find thier glucose has come down, what needs to be added as an infusion?
5% dextrose
80
3 main signs of cerebral oedema?
drop in GCS, falling HR, increased BP
81
If the child presents with signs of cerebral oedema after dka management what is the firrrrst thing you want to check?
BMs
82
If a child is experiencing cerebral oedema after dka management what 2 things can be given? what rates?
mannitol 2.5-5mls/kg 20% over 20 minutes or hypertonic saline 2.7% 5mls/kg over 5-10 minutes
83
What kinds of things do you need to council families about when their child is diagnosed with diabetes?
what to do if sugars become too high, too low, how to inject, monitoring levels, diet, difference between long acting and short acting, Paediatric diabetes nurse specialists, choice program for education, sick day rules
84
Support group for families whose child has diabetes?
Diabetes UK
85
What can cause hypoglycaemia in diabetics?
Missing meals, strenuous exercise, too much insulin, not enough cards/sugar
86
Signs of hypoglycaemia?
Shaking, sweating, hunger, drowsy, irritated, headache, blurred vision, poor concentration
87
If a child experiences a hypo what advice would you give? what else can be given ie if they are drowsy?
Short acting carb and long acting carb unless drowsy, hypostop buccal gel can be given, glucagon IM