Endocrine Flashcards

1
Q

What are the signs & symptoms of type 1 DM?

A
5-7yrs & pre-puberty
Symptoms over a period of weeks
Polyuria
Polydipsia
Nocturia/enuresis
Weight loss
Infections (Candida)
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2
Q

How is type 1 DM investigated?

A

Random glucose: >11.1
Urine dip
Bloods: U&Es, autoantibodies
Blood pH: Exclude DKA

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3
Q

What is the pathophysiology of T1DM?

A

Autoimmune disorder
T-Cell mediated destruction & progressive loss of pancreatic beta cells
Insulin deficiency & hyperglycaemia

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4
Q

How is T1DM managed?

A

Insulin
Child: 0.5-1u/kg/day
Adolescent: 1-2u/kg/day

Annual flu vaccine
Retinal checks

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5
Q

What are the blood sugar targets for a child with T1DM?

A

HbA1c: 48mmol/mol measured 4times a year

Weight & growth measured at the same time

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6
Q

What are the different insulin regimes available?

A

2 dose:Short acting & intermediate acting
3 dose:Short acting & intermediate at breakfast, short at evening meal, intermediate at bedtime
Basal bolus: Bedtime long-acting bolus, fast acting w/every meal
Continuous subcut infusion: Short acting

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7
Q

What are the advantages of each type of insulin regimen?

A

2 dose: Simple
3dose: Reduced frequency of nocturnal hypoG
Bolus: Mimics physiological secretion, flexibility w/meals & exercise, insulin dose adjustment
Infusion: Red frequency of hypoG, flexibility w/meals & exercise, insulin dose adjustment, no bolus

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8
Q

What are the disadvantages of each type of insulin regimen?

A

2does: Mix insulins, peak action not correspond with meal times, hypoG so between meal snacks
Bolus: More injections, more frequent BM monitoring
Infusion: No long acting insulin, interruption- risk of DKA, greater management expertise, more frequent BM monitoring

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9
Q

What are the complications of impaired sugars in T1DM?

A

HypoG: <3.5, hunger, pallor, sweating, dizziness Tx: Oral glucose
Unwell: Insulin requirements change (25-30%)
DKA: Dehydration, hyperglycaemia, ketones
Long-term: Microalbuminaemia, retinopathy

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10
Q

What are the long-term complications of T1DM?

A

Microvascular: Retinopathy, diabetic nephropathy, peripheral & autonomic neuropathy
Macrovascular: HTN, Coronary heart disease
Almost never seen in children

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11
Q

What autoimmune conditions are children with T1DM at risk of?

A

Autoimmune thyroiditis
Coeliac disease
Adrenal insufficiency
All screened for annually

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12
Q

What are the RFs for T2DM?

A
Obesity
FHx
PCOS
SGA
Ethnicity: Asian, Afro-carribbean
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13
Q

How is T2DM investigated?

A
Presence of risk factors
Absence of pancreatic autoAb
Lack of absolute/persistent insulin deficiency
Random plasma glucose >11
Evidence of insulin resistance
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14
Q

How is T2DM managed?

A

Mild: Lifestyle intervention
Drugs: 200-500mg/day Metformin
Long-acting Insulin

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15
Q

What are the causes of hypothyroidism?

A

Congenital: Thyroid dygenesis, Iodine deficiency
Acquired: RT/Surgery, Intracranial tumours, medications, iodine deficiency

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16
Q

What are the signs & symptoms of hypothyroidism?

A

Congenital: Umbilical hernia, Jaundice, Constipation, Hypotonia, Hoarse cry, Dry skin, Poor feeding
Acquired: Goitre, Weight gain, Delayed growth & skeletal maturation, Dry coarse skin, Mental slowness

17
Q

How is hypothyroidism investigated?

A

Congenital: Guthrie heel prick test, Bloods: High TSH, Low T4
Acquired: Bloods: High TSH, Low T3/T4, autoimmune- Thyroid antibody screen

18
Q

How is hypothyroidism managed?

A

Congenital & Acquired: Levothyroxine
Congenital: Monthly T4, TSH levels
Acquired: 4-6monthly TFTs

19
Q

What are the complications of hypothyroidism?

A

Short stature
Poor motor coordination
Ataxia

20
Q

What is Phenylketonuria?

A

Inborn error of amino acid metabolism due to absence of phenylalanine hydroxylase enzyme
Converts Phenylalanine to Tyrosine
Important in formation of catecholamines, melanin & neurotransmitters
Autosomal Recessive

21
Q

What are the signs & symptoms of Phenylketonuria?

A
Developmental delay
Progressive mental retardation
Seizures
Fair hair
Light blue eyes
Vomiting
Musty odour
Derm abnormalities
Self-mutillation
22
Q

How is Phenylketonuria investigated?

A

Heel Prick
Aminoaciduria
MRI
Genetic testing

23
Q

How is Phenylketonuria managed?

A

Protein restriction
Weekly: Biochem monitoring till school age then 2weekly
Adolescents: Monthly

24
Q

What are the complications of Phenylketonuria?

A

High plasma levels of Phenylalanine
Formation of phenylpyruvic acid & phenylethylamine
Neurotoxic- learning disabilities & seizures by 6-12m

25
Q

What are the specific signs of different vitamin deficiencies?

A
Night Blindness: Vit A
Rickets: Vit D
Bleeding: Vit K
Beri Beri &amp; Wernickes: Vit B1
Scurvy: Vit C
26
Q

What are the causes of Rickets?

A

Vit D deficiency: Dark skin, Sun-cream
Defect in Vit D: CKD, enzyme deficiency, anti-epileptics metabolism/action
Phosphate deficiency
Calcium deficiency

27
Q

What are the signs & symptoms of Rickets?

A
Frontal bossing wide sutures
Craniotabes
Rachitic rosary
Harrison's sulcus (chest in under rib cage)
Skeletal deformities- Bowing of legs
Growth delay/arrest
Bone pain/fractures
Muscle weakness
28
Q

How is Rickets investigated?

A

25-Hydroxyvitamin D <25
Bone Profile: Ca, PO4, LFTs-ALP
X-ray: Osteopenia, cupping of distal ends of bones

29
Q

How is Rickets treated?

A

Colecalciferol 50000u/week for 6weeks then maintenance dose
1,25 Dihydroxy Vit D3 replacement therapy
For 8-12weeks
6m: 3000u
<12yr: 6000u
>12: 10000u

30
Q

What are the signs & symptoms of DKA in a child?

A

Signs associated w/Diabetes: Polydispia, polyuria, lethargy, weight loss
Signs associated w/ketoacidosis: Abdo pain, N&V, laboured breathing

31
Q

What are the causes of DKA?

A

Often triggered by an acute infection e.g pharyngitis

32
Q

Why is laboured breathing seen in DKA?

A

Body trying to compensate for the acidosis by blowing off excess CO2.