Musculoskeletal Flashcards
(446 cards)
What is the mutation seen in achondroplasia and what is its inheritance pattern?
Activating mutation in fibroblast growth factor receptor 3 (FGFR3), it is autosomal dominant. Gain of function mutation inhibits growth of cartilage and long bones.
What are the clinical features of achondroplasia?
Short extremities with normal sized head and chest. (Due to loss of endochondral long bone formation)
Why is the sclera blue in osteogenesis imperfecta?
Exposure of the choroidal veins because of thin sclera, which contains type I collagen.
Which type of collagen is defective in osteogenesis imperfecta?
Type I (collagen in bone - Autosomal dominant)
Which cells are dysfunctional in osteopetrosis?
Osteoclasts (can’t resorb bone)
What is the most common enzyme mutation resulting in osteopetrosis and why does it cause the disease?
Carbonic anhydrase II mutations result in osteopetrosis because the enzyme is normally used to produce H+ ions which allow for the breakdown of bone and resorption of calcium by osteoclasts. Without it, bone can’t be broken down.
What will be seen on X-ray of a patient with osteopetrosis?
Very thick bone with no medulla (bone-in-bone appearance)
Why do patients with osteopetrosis commonly have renal tubular acidosis?
Because the most common mutation seen in osteopetrosis is carbonic anhydrase, which, when lost, also causes RTA.
What is the treatment for osteopetrosis?
Bone marrow transplant (get new monocytes, which eventually become osteoclasts).
What is the pathophysiology of rickets/osteomalacia?
Defective mineralization of osteoid due to vitamin D deficiency. Results in deposition of osteoid throughout the body.
What enzyme is a marker for osteoblast activity?
Alkaline phosphatase (alkaline environment needed to lay down calcium in bone)
Why are postmenopausal women at higher risk for osteoporosis?
Estrogen levels decline. Estrogen is protective of bone mass.
Describe the changes seen in serum calcium, phosphate, PTH, and alkaline phosphate seen in a woman with severe osteoporosis.
All will be normal!
Which type of bone is lost in osteoporosis?
Trabecular (spongy) bone
What are the two types of osteoporosis?
Postmenopausal (due to loss of estrogen) Senile (loss of bone density with age)
Explain how PTH works on bone.
PTH activates osteoblasts, which activate the osteoclasts to resorb bone.
Explain the pathophysiology of Paget’s disease of bone.
Increase in osteoclast activity results in increase in osteoblast activity. Osteoclast burns out before the osteoblast, and the osteoblast lays down as much bone as possible, in a mosaic fashion. Results in a thick, sclerotic bone that fractures easily.
Is Paget’s disease diffuse or localized?
Localized - it does not affect the entire skeleton.
Isolated elevated alkaline phosphatase is seen with what disease?
Paget’s disease of bone (calcium, phosphorous, PTH normal)
What are the two main complications of Paget’s disease of bone?
High output cardiac failure (due to AV shunts) Osteosarcoma (malignant tumor of osteoblasts)
Where in the bone is osteomyelitis seen in kids?
Metaphysis (highly vascularized)
Where in the bone is osteomyelitis seen in adults?
Epiphysis
What is the #1 overall cause of osteomyelitis?
S. aureus
What is the #1 cause of osteomyelitis in sickle cell disease?
Salmonella
MOA of zafirleukast/monteleukast
Inhibit production of LTC4, LTD4 specifically (inhibit bronchoconstriction)