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Pediatrics > Bone And Mineral Disorders > Flashcards

Bone And Mineral Disorders Flashcards

1
Q

What are the biochemical findings of conginital hypoparathyroidism? (Inactivation of PTH gene)

A

Low: ca (urinary\serum), PTH, 1.25 vitamin D
High: Po4

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2
Q

What is the vitamin D dependant rickets type 1 and type 2

A

Type 1: alpha 1 hydroxylase deficiency

Type2: resistant in calcitrol gene receptors

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3
Q

When does type 1 vitamin d dependant ricket occut

A

Verrry early, 3-4 months

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4
Q

What is the 1.25 OH D and 25 OHD in type 1 and type 2 dependant ricket

A

Type 1: low 1.25
Type 2: high 1.25
Both of them normal 25 OHD

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5
Q

What is common in arabs, associated with baldness and unresponsive to vitamin D deficency treatment?

A

Type 2 resistant

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6
Q

Which type 1 or 2 in dependant ricket is more similar to nutritional Vitamain D deficency

A

Type1

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7
Q

What are the types of hypophosphatemic rickets?

A

Familial x-linked

Heriditary with hypercalciuria

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8
Q

What is the mutation in hypophosphatemic ricket types

  • with hypercalciuria
  • x-linked
A
  • SLC4a3

- PHEX mutation causes increase FGF23

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9
Q

What is the inheretenece of heridetary hypophosphatemic w\calciuria vs familial hypophosphatemic ricket

A
  • AD and AR

- X-linked

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10
Q

How does x-linked hypophosphatemic ricket occur?

A

Increase FGF32: causes phosphatouria.

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11
Q

What are the secondary rickets?

A

1- prematurity
2- renal
3- tumor induced osteomalacia

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12
Q

Why is rickets of prematurity?

A

1- Bone development is in the last 3 months of pregnancy

2- premature babies loose more PO4 in urine

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13
Q

What are the findings in renal tubular acidosis associated rickets

A

Ricket present with
1- Metabolic acidosis
2- Hyperchloremia (Cl)
3- Hypercalciruria (Ca)

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14
Q

What is the cause of renal tubular acidosis?

A

Failure to excrete hydrogen from distal tubule

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15
Q

What are the findings in renal osteodystrophy assocaited rickets?

A
  • low 1.25 vitamin D
  • hypocalcemia
  • High serum PO4
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16
Q

What is the ooonly type of ricket with hiiiigh serum PO4

A

Renal osteodystropy

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17
Q

What are the findings in tumor induced osteomalacia

A

Hypophosphatemia
Low 1.25
Osteomalacia
Myopathy

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18
Q

What are the general signs and symptoms of rickets

A
  • harrison sulcus
  • delayed closure of fontanel
  • risk of fracture
  • tetany
  • seizure
  • dental changes
19
Q

What are the bone deformities in rickets?

A
  • bending of long bone
  • rachitich rosary (bead like shape)
  • marfan (distension of bone\cartilage)
  • craniotabes
  • genu varum
20
Q

What are radiological finidngs of rickets?

A
  • metaphysis of long bone: fraying, stippling, cupping
  • epiphysises: wide
  • severe: looser zone and fractures
  • CXR: prominant costochondreal junction
21
Q

What is the prophylactic dose of vitamin D therapy

A
  • school: 1000

- infant: 600-800

22
Q

Treatment of vitamin D deficient

A

150000

  • normal: weekly 1 month
  • severe weeklu 6-8m
23
Q

What are the theraputic agents to consider in rickets?

A

1- vitamin D
2- calcium
3- phosphate
4-orthopedic sugery > 4 years s

24
Q

What are the clinical features of conginital hypothyroidism

A
  • hoarse cry & poor feeding & decreased activity
  • constipation & hernia
  • delayed skeletal maturation & large fontanel
  • macroglossia & hyperbilli
25
Q

What are the PE finidngs of congitial hypothyroidism

A
  • dry, pale, yellow, coarse skin
  • periorbital edema + puffy
  • Sinus bradycardia - diastolic HTN - low temp
  • delayed relaxtion of reflex
26
Q

What is the BP findings in conginital hypothyrodiism?

A

Diastolic

Hypertension

27
Q

Which type of hypothyroidism has macroglossia

A

Conginitla type

28
Q

How to treat hypothyroidism?

A

L-thyroxine asap

29
Q

Levothyroxine should not be delayed morre than …………. to avoid irreversible consequence

A

2m

30
Q

What are the cause of conginital hypothyroidism?

A
  • dysgenesis\ dyshormonogenesis
  • iodine def\excess
  • hypothalamaic-pituitary
  • transient
  • drugs
31
Q

What are the inv to do in conginital hypothyroidism?

A
  • Thyroid hormone level

- thyroid scan

32
Q

Which type of conginital hypothyroidism is associated with anencephaly

A

Hypothalamic-pituitary hypothyroidism

33
Q

What are the drugs that cause conginital hypothyrodisim

A

Thinoamide, iodide, lithium, amiodarone, radioidine

34
Q

When does transient hypothyroidims occur?

A

Maternal trab - goiterogen ingestion

35
Q

What are the presentation of acquired hypothyroidims

A

Typical presentation

  • lethargy\somonlence\depression
  • cold intolereence, hoarsness, dry skin
  • constipation, pain, brittle hair
  • exceess menesturation
  • decrease libido
36
Q

Examination of acqured hypothyroidism?

A

Megacolon (↓ peristaltic activity) Pericardial/ pleural effusions Congestive heart failure Non-pitting edema Hoarse voice Myopathy Goiter

37
Q

What are the types of acquired hypothyroidism?

A

Hashimato - subacute thyroiditis - acute infectious thyroidits

38
Q

What is the pathophysiology for hashimato thyroiditis?

A

TPO antibodies (lymphocyting thyroidits)

39
Q

How does subacute thyroiditis usually present>

A
  • Painful, radiate to the ear
  • malaise, fatigue, fever and neck pain
  • pharingitis and URTI
40
Q

What is the cliniacl presentation of. Suppurative thyroidit

A

Usually bacterial, painful, fever chillds and dysphagia and dysphonia

41
Q

How does the presentation of a newborn to a mother with graves

A

Neonatal graves that rresoolve withing 1-3 month

42
Q

Eye findings is commonly seen in …… thyroidism

A

Transient

43
Q

What are the cardiac mainfestation of hyperthyroidims?

A

Tachycardia, flow murumus, afib

44
Q

Jittery, shaky, nervous § Difficulty concentrating Emotional lability § Insomnia § impotence Rapid HR, palpitations, Feeling Hot Weight Loss Diarrhea Fatigue Menses : lighter flow, shorter duration

These are symptoms of

A

Hyperthyroidims

Pediatrics (41 decks)

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