Bone And Mineral Disorders

Question 1

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

Answer 1

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

Question 2

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

Answer 2

Type 1: alpha 1 hydroxylase deficiency

Type2: resistant in calcitrol gene receptors

Question 3

When does type 1 vitamin d dependant ricket occut

Answer 3

Verrry early, 3-4 months

Question 4

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

Answer 4

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

Question 5

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

Answer 5

Type 2 resistant

Question 6

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

Answer 6

Type1

Question 7

What are the types of hypophosphatemic rickets?

Answer 7

Familial x-linked

Heriditary with hypercalciuria

Question 8

What is the mutation in hypophosphatemic ricket types

• with hypercalciuria
• x-linked

Answer 8

• SLC4a3

- PHEX mutation causes increase FGF23

Question 9

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

Answer 9

• AD and AR

- X-linked

Question 10

How does x-linked hypophosphatemic ricket occur?

Answer 10

Increase FGF32: causes phosphatouria.

Question 11

What are the secondary rickets?

Answer 11

1- prematurity
2- renal
3- tumor induced osteomalacia

Question 12

Why is rickets of prematurity?

Answer 12

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

2- premature babies loose more PO4 in urine

Question 13

What are the findings in renal tubular acidosis associated rickets

Answer 13

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

Question 14

What is the cause of renal tubular acidosis?

Answer 14

Failure to excrete hydrogen from distal tubule

Question 15

What are the findings in renal osteodystrophy assocaited rickets?

Answer 15

• low 1.25 vitamin D
• hypocalcemia
• High serum PO4

Question 16

What is the ooonly type of ricket with hiiiigh serum PO4

Answer 16

Renal osteodystropy

Question 17

What are the findings in tumor induced osteomalacia

Answer 17

Hypophosphatemia
Low 1.25
Osteomalacia
Myopathy

Question 18

What are the general signs and symptoms of rickets

Answer 18

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

Question 19

What are the bone deformities in rickets?

Answer 19

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

Question 20

What are radiological finidngs of rickets?

Answer 20

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

Question 21

What is the prophylactic dose of vitamin D therapy

Answer 21

• school: 1000

- infant: 600-800

Question 22

Treatment of vitamin D deficient

Answer 22

150000

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

Question 23

What are the theraputic agents to consider in rickets?

Answer 23

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

Question 24

What are the clinical features of conginital hypothyroidism

Answer 24

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

Question 25

What are the PE finidngs of congitial hypothyroidism

Answer 25

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

Question 26

What is the BP findings in conginital hypothyrodiism?

Answer 26

Diastolic | Hypertension

Question 27

Which type of hypothyroidism has macroglossia

Answer 27

Conginitla type

Question 28

How to treat hypothyroidism?

Answer 28

L-thyroxine asap

Question 29

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

Answer 29

2m

Question 30

What are the cause of conginital hypothyroidism?

Answer 30

- dysgenesis\ dyshormonogenesis - iodine def\excess - hypothalamaic-pituitary - transient - drugs

Question 31

What are the inv to do in conginital hypothyroidism?

Answer 31

- Thyroid hormone level | - thyroid scan

Question 32

Which type of conginital hypothyroidism is associated with anencephaly

Answer 32

Hypothalamic-pituitary hypothyroidism

Question 33

What are the drugs that cause conginital hypothyrodisim

Answer 33

Thinoamide, iodide, lithium, amiodarone, radioidine

Question 34

When does transient hypothyroidims occur?

Answer 34

Maternal trab - goiterogen ingestion

Question 35

What are the presentation of acquired hypothyroidims

Answer 35

Typical presentation - lethargy\somonlence\depression - cold intolereence, hoarsness, dry skin - constipation, pain, brittle hair - exceess menesturation - decrease libido

Question 36

Examination of acqured hypothyroidism?

Answer 36

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

Question 37

What are the types of acquired hypothyroidism?

Answer 37

Hashimato - subacute thyroiditis - acute infectious thyroidits

Question 38

What is the pathophysiology for hashimato thyroiditis?

Answer 38

TPO antibodies (lymphocyting thyroidits)

Question 39

How does subacute thyroiditis usually present>

Answer 39

- Painful, radiate to the ear - malaise, fatigue, fever and neck pain - pharingitis and URTI

Question 40

What is the cliniacl presentation of. Suppurative thyroidit

Answer 40

Usually bacterial, painful, fever chillds and dysphagia and dysphonia

Question 41

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

Answer 41

Neonatal graves that rresoolve withing 1-3 month

Question 42

Eye findings is commonly seen in ...... thyroidism

Answer 42

Transient

Question 43

What are the cardiac mainfestation of hyperthyroidims?

Answer 43

Tachycardia, flow murumus, afib

Question 44

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

Answer 44

Hyperthyroidims