Ms LRP · LRP-5 gene, 11q11-12, wnt signaling pathway · osteoporosis-pseudoglioma syndrome · multiple myeloma px have osteoporosis, bisphosphonates don't prevent lesions: Dickoff protein · Osteopetrosis (marble bone disease described by Albers-Schonberg 1904) · autosomal dominant adult benign · autosomal recessive infantile malignant · failure of osteoclast · reduced marrow space
Hyperparathyroidism · osteitis fibrosa cystica · hypercalcemia · kidney, gut, bone keep, gather, and resorb calcium · hypercalcemia and 1-25(OH)2 Vit D inhibit parathyroid hormone release · drugs that bind calcium sensor are available for kidney disease, work the same way for bone metabolic disease
Osteoclastoma of the jaw · PTH · brown tumors
Osteomalacia · Rickets · In adults: Ca²⁺, phosphorus and Vit D deficiency · some Vit D in food, most from UV · Dietary Ca² deficiency occurs in tropical locations an is usually associated with high oxalate and phytate · Phosphate deficiencies tend to be hereditary · Any defect in the pathway to calcitriol · Vit D deficiency in iguanas kept as pets · bowing, varus, valgus, bone pain, delay in tooth resorption · tetracycline gives kids brown teeth, but useful for determining rate of bone deposition ·
hypophosphatemic vit d resistant Rickets (phosphorus low, Ca normal, not hyperparathyroid, normal BMD (bone mineral density)) · X-linked hypophosphatemia (PHEX gene, a membrane bound peroxidase, Fibroblast Growth Factor 23 is a hyperphosphaturic factor, ADHR abnomrality in FGF-23 abnormality, so that it cannot be cleaved, elevating the FGF-23 · autosomal dominant trait (ADHR) · Oncogenic osteomalacia or tumor induces osteomalacia
Oncogenic osteomalacia · low serum phosphorus · inappropriately low calcitriol · mesenchymal, slow growing tumors, osteoblast-like tumors, ossifying fibrous-like, non-ossifying
Paget's Disease · osteoclast-initiated bone resorption · osteoblasts form to compensate · 30% familial · 5q35, NFκB associated · Viral hypothesis: measles, paramyxovirus · NTX, CTX, DPD · alkaline phosphatase · bone markers suggest extent of disease · men and women · pelvis, skull, bending of tibia, back pain, spinal stenosis, skull enlargement of head, trauma fx, Osteosarcomas, fibrosarcomas, and chondrosarcomas · Decreased bone turnover (Bisphosphonate: etidronate, Tilurdronate, etc, see slides) · Paget's bone is disarrayed.
Osteogenesis imperfecta (not in the slides) · Marie Aczema Aucoin family in New Orleans goes back to 1850s, 250 people in the kindred · Sillence classification: type I: quantitative defect of COL1A1, type II letal, type III · variable clinical picture, blue sclera, fractures as children, premature hearing loss, narrow feet, fractures after menopause · most severely affected members of the family in those whose unaffected parent is petite · bisphosphonates · orthopedic intervention: rodding, fixing · rehab · stapes surgery · Type I collagen, glycine repeats
Osteoporosis · free-estradiol level is most correlated in women and men (testosterone is converted to estrogen) · glucocorticoid-induced · osteoporosis<-2.5 T score · Osteopenia -1.0 to 2.5 T score · 40% of white women >50yo get fragility fracture · femoral neck BMD declines 58% in women; 39% in men · falls, age, BMD · increased morbidity & mortality · Colle's fracture predictive of vertebral fracture. Determinants of peak bone mass: genetics (50-85%), COLA1 & Vit D receptor · osteoprotegerin vs RANKL & RANK · IL-1, -6, -11 · TNF-α, Vit D, PGE2, others
Bone strength · can't measure microarchitecture yet, but strength is much, Impact of modeling on strength is more significant that of remodeling
Other: Craniotabes
Rachitic rosary · Harrison's Groove
Pigeon breast
Pyogenic osteomyelitis · Brodie's abscess · Pott's disease
Brown tumor
Renal osteodystrophy
Chalkstick fracture
Mosaic cement lines
