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15 Cards in this Set
- Front
- Back
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What is the cause and inheritance of achondroplasia?
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Fibroblast growth factor receptor mutation causes impaired cartilage maturation in growth plate --> failure of longitudinal bone growth; autosomal-dominant
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What characterises osteoporosis?
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Reduction of bone mass in spite of normal bone mineralization; sparse trabeculae
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What is type 1 osteoporosis?
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Postmenopausal - increased bone resorption due to decreased estrogen levels
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What is type 2 osteoporosis?
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Senile osteoporosis - affects men and women over 70 years of age
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Disease: anemia, thrombocytopenia, infection, Erlenmeyer flast bones, cranial nerve impingement and palsies
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Osteopetrosis
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What is the cause of osteopetrosis? What is the inheritance?
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Genetic deficiency of carbonic anhydrase II --> abnormal osteoclast function resulting in failure of normal bone resorption; AD and AR (AR more severe)
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What would you expect for serum Ca2+, PO4 3-, and ALP in osteopetrosis?
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All normal
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What is osteomalacia/rickets?
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Defective mineralization/calcification of osteoid
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Disease: 'brown tumors' - cystic spaces lined by osteoclasts, filled with fibrous strom and sometimes blood, high serum Ca2+, low serum PO4 3-, high ALP
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Ostetitis fibrosa cystica caused by hyperparathyroidism
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Disease: mosaic bone pattern, thick weak bones, long bone chalk stick fractures, high output CHF, increased hat size, hearing loss
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Paget's disease (osteitis deformans)
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What would you expect for serum Ca2+, PO4 3-, PTH, and ALP in Paget's disease?
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Normal serum Ca2+, PO4 3-, PTH; Increased ALP
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What is the cause of Paget's disease?
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Increase in both osteoblastic and osteoclastic activity
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What cancer can Paget's disease lead to?
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Osteogenic sarcoma
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What is polyostotic fibrous dysplasia?
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Medullary bone replaced by fibroblasts, collagen, and irregular bony trabeculae
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Disease: form of polyostotic fibrous dysplasia with multiple unilateral bone lesions, endocrine abnormalities (precocious puberty) and unilateral pigmented skin lesions (café-au-lait spots)
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McCune-Albright syndrome (GNAS1 mutation)
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