62. Inflammatory, metabolic and degenerative bone and joint diseases Flashcards
62-1. Congenital diseases of bone. Bone lesions related to endocrine syndromes
congenital diseases of bone (3)
osteogenesis imperfecta
achondroplasia
osteopetrosis
62-1. Congenital diseases of bone. Bone lesions related to endocrine syndromes
etiology of osteogenesis imperfecta
autosomal dominant, collagen 1 synthesis defect
62-1. Congenital diseases of bone. Bone lesions related to endocrine syndromes
clinical manifestation of osteogenesis imperfecta (3)
weak bone
hearing loss
blue sclera
62-1. Congenital diseases of bone. Bone lesions related to endocrine syndromes
etiology of achondroplasia
autosomal dominant, fibroblast growth hormone receptor (FGHR 3) mutation
62-1. Congenital diseases of bone. Bone lesions related to endocrine syndromes
clinical manifestation of achondroplasia
dwarfism
62-1. Congenital diseases of bone. Bone lesions related to endocrine syndromes
etiology of osteopetrosis
inherited defect (AD & AR) of bone resorption
62-1. Congenital diseases of bone. Bone lesions related to endocrine syndromes
types of osteopetrosis
malignant infantile : AR, lethal
adult : AD, mild symptoms
62-1. Congenital diseases of bone. Bone lesions related to endocrine syndromes
morphology of osteopetrosis
thick, heavy bone, easily fracture
62-1. Congenital diseases of bone. Bone lesions related to endocrine syndromes
clinical manifestation of osteopetrosis (4)
bone fracture
myelophthisic process (anemia, thrombocytopenia, leukopenia)
hearing & visual impairment
hydrocephalus
62-1. Congenital diseases of bone. Bone lesions related to endocrine syndromes
endocrine syndromes related to bone (3)
hyperparathyroidism
hyper/hypothyroidism
DM
62-2. Osteoporosis, rickets, osteomalacia
definition of osteoporosis
reduction in trabecular bone mass
62-2. Osteoporosis, rickets, osteomalacia
etiology of osteoporosis (3)
genetics (vitamin D receptor variant)
diet
exercise
62-2. Osteoporosis, rickets, osteomalacia
types of osteoporosis (2)
senile : usually on spine, femoral neck, due to decreased osteoblast activity
postmenopausal : due to decreased estrogen
62-2. Osteoporosis, rickets, osteomalacia
laboratory findings of osteoporosis
no change of serum Ca2+, phosphate, PTH
need DEXA scan
62-2. Osteoporosis, rickets, osteomalacia
definition of rickets / osteomalacia
defective mineralization of osteoid in child / adult