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18.1 Skeletal System Flashcards

1
Q

What, generally, is achondroplasia?

A

Impaired cartilage proliferation in the growth plate

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2
Q

What is the genetic cause of achondroplasia?

A

Activating mutation in FGFR3, causing inhibition of cartilage growth

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3
Q

What is the inheritance pattern of achondroplasia?

A

Most are sporadic, but if inherited, AD

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4
Q

What are the morphological characteristics of achondroplasia? What causes this phenotype?

A

Short extremities with a normal sized head and chest

  • Long bones undergo endochondral bone formation
  • Truncal bones undergo intramembranous bone formation
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5
Q

What happens to mental function, lifespan, and fertility with achondroplasia?

A

Not affected

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6
Q

What is the intramembranous form of bone creation? What type of bones undergo this?

A

Bone is produced from a CT matrix

Bones of the skull, chest

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7
Q

What is the endochondral form of bone creation? What type of bones undergo this?

A

Cartilage produced, dies, and calcifies

Long bones

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8
Q

What is the defect in osteogenesis imperfecta?

A

AD defect in collagen type I synthesis

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9
Q

What are the clinical features of osteogenesis imperfecta? (3)

A
  • Multiple fractures
  • Blue sclera
  • Hearing loss
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10
Q

Why are the sclera blue with osteogenesis imperfecta?

A

Exposure of the choroidal veins

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11
Q

What is osteopetrosis?

A

Inherited defect of bone resorption, resulting in abnormally thick, heavy bone that fractures easily

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12
Q

What is the pathogenesis of osteopetrosis?

A

Carbonic anhydrase II mutation results in lack of acidic environment required for resorption of bone

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13
Q

What is rxn that carbonic anhydrase catalyzes?

A

H2O + CO2 = H2CO3

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14
Q

What are the radiological characteristics of osteopetrosis?

A

Abnormally white and dense bones

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15
Q

What is Winter’s formula? (from sitting in lecture) What is it for?

A

pCO2 = 1.5(HCO3)+8 +/- 2

Measures compensation

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16
Q

What causes the anemia/ thrombocytopenia, and leukopenia with osteopetrosis?

A

Encroachment of bone on medulla of the bone

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17
Q

What causes the vision and hearing impairment of osteopetrosis?

A

CN impingement 2/2 ossification

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18
Q

What causes the hydrocephalus with osteopetrosis?

A

Ossification of the foramen magnum

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19
Q

What causes the acidosis with osteopetrosis?

A

Carbonic anhydrase deficiency results in a loss of bicarb in the blood, and an inability to excrete acid into the urine

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20
Q

What is the treatment for osteopetrosis?

A

Bone marrow transplant, which causes new and better osteocyte formation

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21
Q

What is the defect in rickets/osteomalacia?

A

Defective mineralization of osteoid 2/2 low levels of vit D

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22
Q

What are the four main causes of Vit D deficiency?

A
  • Decreased sun exposure
  • Poor diet
  • Malabsorption
  • Liver failure and renal failure
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23
Q

When does rickets usually present?

A

Less than 1 year old

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24
Q

What are the clinical features of rickets? (4)

A
  • Pigeon breast deformity
  • Frontal bossing
  • Rachitic rosary
  • Bowing of legs
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25
What is depositied in abnormal places with rickets?
Osteoid
26
What is osteomalacia?
Low vit D in adults results in weak bone with an increased risk for fractures
27
What happen to serum Ca levels with osteomalacia?
Decreased
28
What happen to serum phosphate levels with osteomalacia?
Decreased
29
What happen to serum PTH levels with osteomalacia?
Increased
30
What happen to serum alk phos levels with osteomalacia?
Increased
31
What is the role of alk phos?
Used by osteoblasts to create an alkaline environment for bone to be laid down
32
What diseases is characterized by a loss of trabecular bone mass?
Osteoporosis
33
What are the three factors that determine the peak bone mass?
1. diet 2. exercise 3. Vit D receptor inheritance
34
What is the age that bone mass peaks?
30 years old
35
The risk of osteoporosis is based on what two factors?
Peak bone mass and rate of bone loss thereafter
36
What are the two most common form of osteoporosis?
Senile | Postmenopausal
37
What are the clinical features of osteoporosis?
Bone pain and fractures in weight bearing areas
38
What happens to serum Ca with osteoporosis?
Normal
39
What happens to serum PTH with osteoporosis?
Normal
40
What happens to serum phosphate with osteoporosis?
Normal
41
What happens to serum alk phos with osteoporosis?
Normal
42
How is bone density measured?
DXA scan
43
True or false: there are no abnormal labs with osteoporosis
True
44
What defines osteoporosis vs osteopenia?
Osteopenia = -1 to -2.4 SDs Osteoporosis = -2.5 and lower
45
What is the treatment for osteoporosis?
Exercise Vit D Calcium
46
What is the MOA of bisphosphonates in treating osteoporosis?
Binds to phosphate in bone, and inhibits osteoclastic action (causes apoptosis of osteoclasts)
47
What is the general pathophysiology of Paget's disease of bone?
Imbalance between osteoclast and osteoblast action--first over osteoclast action, followed by osteoblast action that produce crappy bone
48
When does Paget's disease of bone usually present?
Late adulthood (60s)
49
True or false: Paget's disease of bone usually involves the entire skeleton
False--usually one or more, but not entire skeleton
50
What are the three general stages of Paget's disease of bone?
1. Osteoclastic 2. Mixed 3 .Osteoblastic
51
What is the end result of Paget's disease of bone?
Thick, sclerotic bone that fractures easily
52
What are the histological characteristics of Paget's disease of bone?
Tons of eosinophilic bone, with lines that have not been sealed ("Jigsaw puzzle" pattern)
53
Jigsaw puzzle bone = ?
Paget's disease of bone
54
What are the classic features of Paget's disease of bone?
- Increased hat size - Hearing loss - Lion-like facies 2/2 bone malformation
55
What lab is classically elevated in Paget's disease of bone?
Alk phos
56
What are the two major drugs that are used to treat Paget's disease of bone?
Calcitonin | Bisphosphonates
57
What causes the high output cardiac failure with Paget's disease of the bone?
Proliferation of AV shunts in bones increases CO
58
What cancer are patients with Paget's disease at increased risk for?
Osteosarcoma (malignant proliferation of osteoblasts)
59
Where does osteomyelitis usually come from?
Hematogenous spread to bone
60
Where in the bone is osteomyelitis usually seen? (kids, adults)
Metaphysis in kids | Epiphysis in adults
61
Is osteomyelitis usually bacterial, fungal, or viral?
Bacterial
62
What is the most common bacteria that causes osteomyelitis?
Staph Aureus
63
What is the most common bacteria that causes osteomyelitis in sickle cell patients?
Salmonella
64
What are the patients that get osteomyelitis 2/2 pseudomonas?
DM and drug abusers
65
What bone does TB classically infect?
Vertebral bodies
66
What are the clinical features of osteomyelitis?
Bone pain with leukocytosis and fever
67
What are the radiological findings of osteomyelitis?
Lytic focus surrounded by sclerosis
68
How can you diagnose osteomyelitis?
Blood cultures
69
What, generally, is avascular (aseptic) necrosis?
ischemic necrosis of the bone and bone marrow
70
What are the causes of avascular (aseptic) necrosis?
- Trauma/fracture - Steroids - Sickle cell - Caisson's disease
71
What are the major complications of avascular necrosis?
Osteoarthritis | Fractures
72
What is Caisson's disease?
"The bends" 2/2 to a reduction in ambient pressure, resulting in the formation of inert gas bubble in tissues, such as the joints, lungs, or brain

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