MSK Flashcards
Impaired cartilage proliferation in the growth plate; common cause of dwarfism
Achondroplasia
Autosomal Dominant, FGFR3* (fibroblast growth factor receptor 3) Activation Mutation*; leads to overexpression which inhibits growth
Achondroplasia
Form of bone formation: formation of a cartilage matrix; which then dies, is mineralized and replaced by bone
Endochondral bone formation (ie: long bones of extremities)
formation of bone w/o preexisting cartilage matrix; bone made directly from CT matrix
Intermembranous bone formation (Ie: flat bones of the skull and chest)
AD Type I collagen synthesis defect in bone formation
Osteogenesis imperfecta
Multiple fractures, Blue sclera; hearing loss are all sx of
Osteogenesis imperfecta
Type of collagen present in bone
Type I collagen in bONE
Blue sclera in Osteogenesis Imperfecta is due to
Thinning of scleral collagen which reveals underlying Choroidal Veins
Hearing loss in Osteogenesis Imperfecta due to
bones of middle ear fx easily
Abnormal thickening of bones (resulting in chalk-like bones) is due to poor osteoclast function is seen in
Osteopetrosis
Osteopetrosis
Inherited defect in bone resorption resulting in abnormally thick, heavy bone that fx easily
Osteopetrosis has mutation in
Carbonic Anhydrase II mutation leads to loss of the acidic environment neccesary for bone resorption
Clinical fx of Osteopetrosis
Bone Fxs, Anemia, Thrombocytopenia, and Leukopenia - b/c the medullary space w/in the bone where the marrow is is replaced by bone growth ; Vision and Hearing impairment (thickened skull impinges nerves); Hydrocephalus (narrowing of foramen magnum); RENAL TUBULAR ACIDOSIS
Treatment of Osteopetrosis
Bone marrow transplant (since osteoclasts, Macrophages of the bone) are derived from Monocytes, which are derived from hematopoesis
Ages for Rickets and Osteomalacia
Rickets in children less than 1yr; Osteomalacia in adults
Defective mineralization of an osteoid
Rickets and Osteomalacia
Osteoblasts normally make osteoids; which is then mineralized with Calicum and Phosphate to form bone; defective in
Rickets and Osteomalacia
Rickets and Osteomalacia is due to low levels of
Vitamin D; necessary for absorption of Ca and K
Activation of Vitamin D requires
25-hydroxylation by the LIVER; followed by 1-alpha-hydroxylation in the KIDNEYS (proximal tubules)
Vitamin D deficiency in
Rickets and Osteomalacia
Vitamin increases absorption of Ca and K from
Intestines, Kidneys, and Bone
Features seen in Rickets
Pigeon chest deformity, Frontal bossing (enlarged forehead); Rachitic Rosary (osteoid deposition at the osteochondral junction); Bowing of the legs
Lab findings in osteomalacia
Low serum Ca, Low serum K, high Alkaline phosphatase, high PTH
Reduction in trabecular bone mass leads to
Osteoporosis; porous bones w/ inc fx risk
Lab results in osteoporosis
All normal (help distinguish from Osteomalacia)
Contraindicated in osteoporosis
Glucocorticoids
Imbalance between osteoblast and osteoclast in 60+ y/o; localized involving 1 or 2 bones; not the entire skeleton; could be a viral cause
Paget disease
3 stages of Paget’s dz
Osteoclastic –> mixed –> only osteoblasts
Paget dz
thick, sclerotic bone (mosaic llamelar a
Cause of isolated rise in Alkaline Phosphatase
Paget
Complications due to Paget
High output cardiac failure (due to AV shunt formations in bone) ** and Osteosarcoma (due to increased osteoblast activity)
Infection of bone and marrow; usually bacterial due to hematogenous spread
Osteomyelitis
Cause of Osteomyelitis in adults
Open wound bacteremia seeds Epiphysis*
Cause of Osteomyelitis in children
Transient bacteremia seeds Metaphysis*
Most common cause of Osteomyelitis
S. aureus