Osteopetrosis

Question 1

What is osteopetrosis?

Answer 1

Osteopetrosis is failure of normal bone resorption due to defective osteoclasts which leads to thickened, dense bones that are prone to fracture

Question 2

What occurs in osteopetrosis?

Answer 2

Bone fills the marrow space, leading to pancytopenia, extramedullary hematopoiesis.

Question 3

What mutations occur in osteopetrosis that impairs the ability of osteoclast to generate an acidic environment necessary for bone resorption?

Answer 3

Carbonic anhydrase II mutations

Question 4

What do x-rays of patients with osteopetrosis show?

Answer 4

X-rays will show bone-in-bone (stone bone) appearance

Question 5

What are complications of osteopetrosis?

Answer 5

1. cranial nerve impingment
2. palsies

Both a result of narrowed foramina

Question 6

What is a potential curative treatment for osteopetrosis?

Answer 6

Bone marrow transplant is a potentially curative treatment as osteoclasts are derived from monocytes.