Paediatric endocrinology Flashcards

1
Q

Diabetes is one of the most common chronic diseases to be seen in children. T/F

A

True

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2
Q

What are the stages of development of type 1 diabetes?

A

Genetic predisposition
Beta cell pathology
Pre-diabetes (large number of beta cells still functioning)
Diabetes

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3
Q

What is the typical presentation of type 1 diabetes in children?

A
Polyuria
Polydipsia
Weight loss 
Enuresis 
Malaise 
Constipation
Oral or vulvulal candida 
Blurred vision
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4
Q

What is the typical presentation of DKA?

A
Vomiting
Nausea
Abdominal pain
Kussmaul respiration
Pear drop breath 
Decreased consciousness 
Coma
Death
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5
Q

What are the clinical signs of type 1 diabetes?

A

Fasting blood glucose >7

Random blood glucose >11

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6
Q

What are the clinical signs of DKA?

A

Ketonuria
Dehydration
Blood pH

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7
Q

What two questions are important to ask directly in a child with suspected diabetes?

A

Polyuria

Polydipsia

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8
Q

Should a child with suspected type 1 diabetes be immediately referred to secondary care?

A

Yes

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9
Q

How should suspected type 1 diabetes be investigated?

A

Random blood glucose

Urinalysis

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10
Q

How is DKA management in children different than management in adults?

A

Weight based
Careful fluid resuscitation
Insulin started one hour after IV fluids given

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11
Q

What is the risk with overenthusiastic fluid resuscitation in children with DKA?

A

Cerebral oedema

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12
Q

What are diabetic children routinely screened for?

A

Retinopathy (fundoscopy)
Microvascular (BP)
Nephropathy (albumin;creatinine ratio)

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13
Q

What is the effect of poor diabetes control in children?

A

Poor growth
Microvascular changes
Social and emotional

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14
Q

What are the early changes of microvascular disease in children with type 1 diabetes?

A
Microalbuminuria 
Cardiovascular autonomic neuropathy (postural hypotension)
Retinopathy
Sensory nerve damage
Skin vascular changes 
Endothelial pathology
Cheiroarthropathy
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15
Q

Which factors indicate high risk paediatric patients?

A

Not seen for over 6 months
High HbA1c
DKA admissions
Social work involvement

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16
Q

What are the primary causes of congenital thyroid disease?

A

Gland dysplasia +/- abnormal location

Inborn errors of metabolism

17
Q

What are the secondary causes of congenital thyroid disease?

A

Congenital pituitary disease (hypopituitarism)

18
Q

How does congenial thyroid disease present?

A
Delayed jaundice
Weight gain despite poor feeding
Hypotonia
Umbilical hernia
Constipation
Skin & hair changes
19
Q

How does congenial thyroid disease present?

A
Delayed jaundice
Weight gain despite poor feeding
Hypotonia
Umbilical hernia
Constipation
Skin & hair changes
20
Q

How is congenital thyroid disease screened for? How is this done?

A

Gunthrie test - blood spot on day 5 of life to measure TSH and T4

21
Q

When should therapy of congenital thyroid disease be initiated?

A

Ideally within 2 weeks

2-3 months before cretinism

22
Q

What is cretinism?

A

Permanent developmental delay

23
Q

Why is there a window of opportunity for treatment?

A

Baby is protected by placental hormones

24
Q

In what scenarios might acquired thyroid disease present in the young?

A
Delayed congenital 
Associated with type one diabetes
Autoimmune
Post-infection
Iodine deficiency
25
Q

How might hypothyroidism present in the young?

A

Delayed puberty
Growth failure
Educational difficulties
Goitre

26
Q

How might hypothyroidism be investigated?

A

Thyroid function tests (TSH high and T3/4 low)

Thyroid antibody tests (high)

27
Q

How is hypothyroidism treated?

A

Thyroxine for life

28
Q

How is the dose of thyroxine determined?

A

By the child’s weight

29
Q

Is hyperthyroidism common in the young?

A

No

30
Q

How can hyperthyroidism present?

A
Eating and behavioural difficulties
Sleep disturbance 
Goitre
High pulse
Precocious puberty
31
Q

How might hyperthyroidism be investigated?

A

Thyroid function tests (low TSH and high T3/4)

Thyroid antibody tests (high)

32
Q

How is hyperthyroidism treated?

A

Beta-blockers
For the first two years carbimazole +/- thyroxine
Surgery
Radio-iodine

33
Q

What are the causes of primary underactive adrenal disease in the young?

A

Hypoplasia
Inborn error of metabolism
Congenital bilateral hyperplasia

34
Q

What are the causes of secondary underactive adrenal disease in the young?

A

Pituitary

Suppression secondary to high dose/prolonged steroids

35
Q

What are the causes of overactive adrenal disease in the young?

A

Cortisol therapy

Adrenal or pituitary cushing’s

36
Q

How does an addison’s crisis present?

A

Low sodium, high potassium, hypovolaemia

37
Q

How is an addison’s crisis treated?

A

Salt & cortisol

38
Q

What are the common causes of ambiguous genitalia?

A

Adrenal hyperplasia
Steroid abnormalities
Gene/chromosome abnormalities
Congenital defects