Type 1 Diabetes and MODY Flashcards

1
Q

If a child has a first degree family member with T1DM, chances of the child getting type 1 also is

A

5-6%

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2
Q

What is the chance of the other twin getting type 1 in dizygotic twins

A

5-10%

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3
Q

what is the chance of the other twin getting type 1 in monozygotic twins

A

30-40%

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4
Q

What is the symptoms of type 1 DM

A
polydipsia
polyuria
weight loss
thrush
weakness/fatigue/lethargy 
blurred vision 
infections
Kussmauls breathing
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5
Q

Why does thrush occur in T1DM

A

due to the increased levels of glucose

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6
Q

Why does blurred vision occur in someone with T1DM

A

the high levels of glucose are absorbed by the lens and cause it to change shape leading to acute short sightedness

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7
Q

Infections most commonly occur where

A

UTI and respiratory tract

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8
Q

When does Kussmauls breathing occur in someone with T1DM

A

during DKA

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9
Q

Which onset does type 1 diabetes usually have

A

acute

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10
Q

When does type 1 usually present

A

pre-school/pre-puberty

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11
Q

Is type 1 and autoimmune condition

A

yes

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12
Q

What is used for the investigation of type 1

A

fasting blood glucose
urinalysis (ketones)
oral glucose tolerance test
anti-islet testing

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13
Q

what is the treatment for type 1

A

insulin

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14
Q

What are the two types of long-acting twice daily analogue insulins called

A

detemir/glargine (levemir/lantus = brand name)

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15
Q

What are long acting insulin analogues used as

A

basal therapy

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16
Q

What else can also be used as basal therapy

A

long acting human insulins

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17
Q

What are the 2 names of long acting human insulins

A

insulatard and humulin I

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18
Q

What are the 2 names and their brand names of the rapid acting insulin analogues

A

lispro (humalog) and aspart (novorapid)

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19
Q

What are the rapid acting insulin analogues used for

A

bolus therapy (before meals)

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20
Q

What else can be used for bolus therapy

A

rapid acting human insulin

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21
Q

what are the 2 names of rapid acting human insulin

A

Humulin S and actrapid

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22
Q

how many times a day is a mixed insulin regimen given

A

twice daily

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23
Q

What are the mixed insulin analogues called

A

Humalog mix 25
Humalog mix 50
Novomix 50

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24
Q

What are the human mixed insulins called

A

Humulin M2, M3, M5

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25
Q

What does an insulin pump do

A

gives a constant flow of insulin throughout the day which the patient can top up before meals

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26
Q

An insulin pump does what to the blood pressure

A

helps to control it better

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27
Q

When should IV insulin be given

A

DKA
Hyperosmolar hyperglycaemic state
Acute illness

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28
Q

Patients should be encouraged to inject insulin into the same site but to rotate. Why is this

A

to avoid lipohypertrophy (can delay absorption)

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29
Q

What should a patient be encouraged to do

A

monitor blood glucose
to do physical activity
to keep a food diary
to take part in a carb counting programme (e.g. DAFNE)
to meet with a dietician to control weight

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30
Q

The poyol pathway is also known as the

A

aldose-reductase pathway

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31
Q

when does the poyol pathway occur

A

when intracellular glucose is high

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32
Q

Where is the poyol pathway found

A

nerves
retina
blood vessel walls
(these are insulin dependant)

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33
Q

What is the function of the poyol pathway

A

to decrease glucose levels at its sites

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34
Q

Huge amounts of glucose are needed to activate the poyol pathway. why is this

A

its enzyme, aldose reductase has a very high km compared to glucokinase

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35
Q

What does aldose reductase do in the poyol pathway

A

changes glucose to sorbitol (some change into methylglyoxal and acetol)

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36
Q

What does sorbitol do in the poyol pathway

A

exerts osmotic pressure onto the cell which damages the cell over time

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37
Q

What is sorbitol changed to, to prevent the damage to the cell overtime

A

fructose (a glycating sugar)

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38
Q

What is the enzyme that catalyses the change from sorbitol to fructose

A

sorbitol dehydrogenase

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39
Q

The change from sorbitol to fructose allows what

A

it to diffuse out of the cell

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40
Q

HbA1c is what

A

the extent to which Hb is bound to glycating sugars

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41
Q

HbA1c is used to indicate what in diabetes

A

glycaemic control over the past 2-3 months

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42
Q

What is the normal HbA1c of someone

A

<42mmol/l

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43
Q

What HbA1c describes pre-diabetic

A

42-47 mmol/l

44
Q

What HbA1c describes diabetic

A

> /= 48mmol/l

45
Q

What HbA1c should patients with diabetes aim for

A

<48 mmol/l

46
Q

What are the symptoms of hypoglycaemia

A
shaking 
sweating
anxious
dizzy
hungry
tachycardic 
impaired vision
weakness/fatigue
headache/irritable 
may look drunk
47
Q

What is the lower level of glucose that describes hypoglycaemia

A

4 is the floor

48
Q

What is the treatment for hypoglycaemia

A

consume 15-20g of glucose (in sachet or gel) or eat simple carbs e.g. bread

49
Q

When should blood glucose be checked after a hypoglycaemic attack

A

after 15 min

50
Q

what correlates to 15g of sugar

A
2tbsp raisins
4oz of coca cola
1tbsp of honey, sugar, corn syrup
8oz non fat/1% milk
hard sweets
jelly beans 
gumdrops
51
Q

What is the treatment for a severe hypoglycaemic attack

A

glucagon 1mg injection (stored in fridge) into buttock, arm or thigh
IV glucose is infused after 10-15 min

52
Q

Diabetic ketoacidosis can be described as

A

Absolute/relative insulin deficiency + increase in counter regulatory hormones

53
Q

What will ketones looks like in DKA

A

ketonaemia - >3 mmol/l or significant ketonuria - >2 on dipstix

54
Q

What will blood glucose look like in DKA

A

> 11mmol/l (diagnostically but will usually be up at 40)

55
Q

What will bicarbonate look like in DKA

A

<15 mmol/l (<10 in severe)

56
Q

pH will be what in DKA

A

<7.3

57
Q

What is the most common cause of DKA

A

non-adherance with treatment

58
Q

What are other causes of DKA

A

illness
alcohol
newly diagnosed diabetes

59
Q

What are the symptoms of DKA

A
thirst and polyuria
dehydration
flushed
vomiting 
abdominal pain and tenderness
Kussmauls respiration 
\+/- ketones on breath
60
Q

What will potassium be greater than in DKA

A

> 5.5 mmol/l

61
Q

what else may be increased in DKA

A

creatinine
lactate
amylase

62
Q

Is sodium increased or decreased in DKA

A

decreased

63
Q

What is the treatment for DKA

A

replace fluids - with saline then dextrose once glucose <15mmol/l
Replace insulin and potassium
Address risks

64
Q

What are the 2 ways ketones can be monitored

A

urine and blood

65
Q

what is being measured in urine ketone monitoring

A

acetoacetone

66
Q

What is measured in blood ketone monitoring

A

hydroxybutyrate (measured with an optium meter)

67
Q

What is the norm for ketones

A

<0.6 mmol/l

68
Q

There is hospital admission for type 1 if

A

unable to tolerate oral fluids
persistent vomiting and hyperglycaemia
persistent increase of ketones
abdominal pain and breathlessness

69
Q

Hyperglycaemic hyperosmolar syndrome usually occurs in what age group

A

older

70
Q

When does hyperglycaemic hyperosmolar syndrome usually occur

A

right after a high refined carb intake

71
Q

what is included in hyperglycaemic hyperosmolar syndrome

A

hypovolaemia + hyperglycaemia (without significant acidosis/ ketonaemia) + hyperosmolar

72
Q

what is the blood glucose in HHS usually

A

> 30 mmol/l

73
Q

WHat is the osmolality in HHS usually

A

> 320 mosmol/kg

74
Q

What is usually the cause of HHS

A

fizzy drinks
diuretics
steroids

75
Q

what organ is damaged in HHS

A

significant renal impairment

76
Q

Does HHS have higher or lower glucose than DKA

A

higher

77
Q

What is the normal range of osmolality

A

285-295

78
Q

What is the osmolality in HHS

A

around 400

79
Q

What is the calculation for osmolality

A

2x (Na +/- K) + urea + glucose

80
Q

What is the long term treatment for HHS

A

diet

possibly insulin

81
Q

What is the acute treatment for HHS

A

IV saline
low dose IV insulin once glucose <15 mmol/l
prophylactic anti-coagulation

82
Q

Why do you give K in DKA

A

as you give insulin, it causes an increase in the Na/K pump causing increase efflux of K and Na influx in the cell. This K then has to be replaced

83
Q

What is lactic acidosis

A

the build up of lactic acid in the body that results in a low pH

84
Q

lactic acidosis is what type of acidosis

A

metabolic acidosis

85
Q

Clearance of lactate occurs how

A

hepatic uptake

aerobic conversion of it to pyruvate

86
Q

what is the normal lactate level

A

0.6-1.2 mmol/l

87
Q

When is lactate lowest

A

when fasting

88
Q

when is acidosis most likely

A

when lactate >5 mmol/l

89
Q

What is type A lactic acidosis associated with

A

tissue hypoxaemia

e.g. infarcted tissue, cardiogenic shock, hypovolaemic shock

90
Q

When might type B lactic acidosis occur

A

liver disease

leukaemic states

91
Q

Which type of lactic acidosis is associated with diabetes

A

type B

92
Q

In lactic acidosis, bicarbonate is

A

decreased

93
Q

In lactic acidosis, phosphate is

A

increased

94
Q

There is an ________ anion gap in lactic acidosis

A

increased

95
Q

What is the treatment for lactic acidosis

A

IV fluids
IV antibiotics
withdrawal of offending medications and treat the underlying cause

96
Q

MODY is a monogenic genetic defect in what

A

beta cell function

97
Q

what can MODY present as

A

early type 2 diabetes (defective glucose sensing) and primary defects in secretion of insulin

98
Q

In MODY2, what is impaired

A

glucokinase activity

blood glucose threshold for insulin is increased (above 5mM)

99
Q

What kind of inheritance is MODY

A

Autosomal dominant inheritance

100
Q

Can MODY get progressive micro and macrovascular complications

A

yes

101
Q

What kind of onset does MODY have

A

slow

102
Q

What is the treatment for MODY

A

responds to sulphonylureas

103
Q

Is C peptide present in type 1

A

no

104
Q

Is C peptide present in type 2

A

yes

105
Q

Is C peptide present in MODY

A

yes