Metabolic And Genetic Disease (lab)

Question 1

How to evaluate patient evaluation and diagnosis

Answer 1

1. History ( chief complain, medical and dental history )
2. Radiograph
3. Clinical examination
4. Histopathology examination (biopsy result)
5. LABORATORY EXAMINATION
6. Blood test (CBC, WBC differentials, PT/PTT, clotting time, bleeding time)
7. Hormone-specific test
8. Biomarkers

Question 2

Chronic, slowly progressive metabolic disorder of bone of undetermined cause

Answer 2

Paget’s disease

Question 3

Hyperactive bone turnover state

Patients older than 50 years

Answer 3

Paget’s disease (osteitis deformans)

Question 4

Etiology of paget’s disease

Answer 4

Unknown

Question 5

Familial of paget’s disease

Answer 5

SQSTM1

Question 6

Three phase of paget’s disease

Answer 6

Initial resorptive phase
Vascular phase
Sclerosing or osteoblastic phase

Question 7

Phase of paegt’s disease

• overactive osteoclastic bone
• urinary calcium and hydroxyproline

Answer 7

Initial resorptive phase

Question 8

Phae of paget’s disease

• replacement with vascularized connective tissue

Answer 8

Vascular phase

Question 9

Phase of paget’s disease

• elevated alkaline phosphatase

Answer 9

Sclerosing or osteoblastic phase

Question 10

Bone pain is deep and aching

Neurologic complainst

10-20% of patients are asymptomatic and diagnosed after radiographic or laboratory studies

Answer 10

Paget’s disease

Question 11

Osteoclastic activity

Answer 11

Paget’s disease

Question 12

Treatment of paget’s disease

Answer 12

Calcitonin and bisphosphonates

Alkaline phosphatase marker and urinary hydroxyproline 50% decrease if a good therapeutic response

Question 13

Three types of hyperparathyroidism

Answer 13

Primary
Secondary
Hereditary

Question 14

Type of hyperparathyroidism

Hyperplastic parathyroid glands

Parathyroid adenoma

Adenocarcinoma

Answer 14

Primary hyperparathyroidism

Question 15

Type of hyperparathyroidism

Compensatory hyperplasia

Answer 15

Secnodary hyperparathyroidism

Question 16

Type of hyperparathyroidism

MEN type1 and 2A

Rare: noonan-type syndrome

Answer 16

Hereditary hyperparathyroidism

Question 17

Increased PTH
Increased calcium levels in blood
Increased alkaline phosphatase
Low calcium excretion

Secondary: renal failure, intestinal malabsorption, low vitamin B3

Answer 17

Hyperparathyroidism

Question 18

Stones, bones, groans and moans

Generalized resorption of bone, loosening of teeth, loss of trabecular pattern

Answer 18

Hyperparathyroidism

Question 19

Bone lesion of hyperparathyroidism is not specific but important in establishing the diagnosis

Bony trabeculae exhibit osteoclastic resorption, osteoid trabeculae by osteoblasts

Answer 19

Hyperparathyroidism

Question 20

Excess amount of thyroid hormones, triiodothyronine, thyroxine, or thyroid stimulating hormone

Common clinical is? ______

Answer 20

Hyperthyroidism , graves disease

Question 21

Heat intolerance, hyperhdrosis, palmar erythema

Fine motor tremor, muscle weakness

Altered complexion and thinning, brittle hair

Oral: premature exfoliation and rapid eruption of teeth, burning tongue

Answer 21

Hyperthyroidism

Question 22

Clinical importance of hyperthyroidism

Answer 22

Avoid thyroid crisis: palpitations, anxiety, fatigue

Avoid epinephrine and atropine

Question 23

Reduced production of thyroid hormone

Answer 23

Hypothyroidism

Question 24

Autoimmune (hashimoto’s thyriditis), iodine deficiency goiter, congenital defect, idipathic

Children: cretinism, adult myxedema

Answer 24

Hypothyroidism

Question 25

Hypothyroidism in children

Answer 25

Cretinism

Question 26

Hypothyroidism in adult

Answer 26

Myxedema

Question 27

Delayed skeletal and dental development Sexual immaturity Edema offace, eyes, lips and tongue Mental lethargy Skin changes: dry, cold, scaly, discolored Hair/Nails: hair loss common, brittle nails Slow pulse Fatigue, lethargy Anemia: microcytic, hypochromic Hyperlipidemia

Answer 27

Hypothyroidism

Question 28

Type of hypothyroidism that is compensatory pituitary reaction - T4 levels are low (someimes normal) and TSH levels are high

Answer 28

Primary hypothyroidism

Question 29

Type of hypothyroidism that if (defunct pituitary gland): T4 and TSH are low

Answer 29

Hypothyroidism

Question 30

A rare hereditary disorder; deficiency in alkaline phosphatase Dental significance: premature loss of the primary dentition

Answer 30

Hypophosphatasia

Question 31

Adolescent and adult: reduced alveolar bone, abnormal root cementum, focal areas of dentin resorption, altered mineralization of coronal dentin,large coronal pulp chambers of the molar dentition

Answer 31

Hypophosphatasia

Question 32

Laboratory exam of hypophosphatasia

Answer 32

Reduction in alkaline phosphatase levels

Question 33

Specific biomarker of hypophosphatasia

Answer 33

Urine phosphoethanolamine

Question 34

Oral manifestation of ___ . Multiple jaw lucencies (giant cell lesions); loss of lamina dura; pulp calcificain

Answer 34

Hyperparathyroidism

Question 35

Oral manifestation of __. Premature exfoliation and eruption of teeth; osteoporosis

Answer 35

Hyperthyroidism

Question 36

Oral manifestation of ____. Premature loss of teeth; reduced cementum and dentin; short roots, large pulps

Answer 36

Hypophosphatasia