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Disorders of the bone,[object Object],by Yapa Wijeratne,[object Object],Faculty of Medicine,[object Object],University of Peradeniya,[object Object],Sri Lanka,[object Object]
Osteoporosis ,[object Object],Osteopetrosis (marble bone disease),[object Object],Paget’s disease of bone,[object Object],Osteomalacia & rickets ,[object Object],Osteogenesisimperfacta (brittle bones),[object Object]
1.Osteoporosis ,[object Object],Relative excess of osteoclast (OC) function.,[object Object],A significant reduction of bone mineral density compared with age & sex match norms.,[object Object],↑ susceptibility to fractures.,[object Object],Disease of aging.,[object Object],Bone density peak at 30 yrs  in both sex.,[object Object],Rate of bone loss is accelerated in females ,after loss of estrogen (E2) secretion at the menopause.,[object Object],E2   inhibits stimulatory effect of certain cytokines which contribute bone resorption on OC. Thereby prevent osteoporosis. At the menopause this inhibitory effect is removed & cytokines are activated.,[object Object]
Disorders Of The Bone By Yapa Wijeratne
Factors ↑ the risk of osteoporosis,[object Object],Aging ,[object Object],Females,[object Object],Premature menopause,[object Object],Smoking ,[object Object],↑ alcohol intake,[object Object],Excessive exercise,[object Object],Inactivity-immobilization,[object Object],Poor [Ca+2] intake ,[object Object],Excessive caffeine intake,[object Object]
2. Osteopetrosis (marble bone disease),[object Object],Rare & often severe disease.,[object Object],characterized by increased bone density.,[object Object],OC are defective & unable to resorb bone in the usual fashion. ,[object Object],One form occurs along with renal tubular acidosis and cerebral calcification. ,[object Object],It is due to mutations in the gene encoding carbonic anhydrase II(provide H+ to neutralize OH-),[object Object],Narrowing & distortion of foramina -> compress nerves ->neurologic defects.,[object Object],Crowding out of the marrow cavities ->hematological abnormalities ,[object Object]
Histological appearance of bone in osteopetrosis,[object Object]
3. Paget’s disease of bone,[object Object],Localized disorder characterized by accelerated bone turnover.,[object Object],Initiated by ↑OC mediated bone resorption. ,[object Object],↑ALP activity,[object Object],↑Collagen breakdown by OC result in a ,[object Object],↑ [Hydroxyproline] & [collagen fragments] in urine.,[object Object]
Disorders Of The Bone By Yapa Wijeratne
Histological appearance of bone in Paget’s disease of bone,[object Object]
4.Osteomalacia & rickets ,[object Object],Abnormal mineralization of bone & cartilage.,[object Object],Vit D ↓  -> defective calcification of bone matrix,[object Object],Osteomalacia -> adults,[object Object],Rickets-> children,[object Object],Main defect is failure to deliver adequate amounts of [Ca+2] & [PO4-3] to the site of mineralization.,[object Object],In children ,,[object Object],Weakness & bowing of Wt bearing bones,[object Object],Dental defects,[object Object],hypocalcemia,[object Object]
Disorders Of The Bone By Yapa Wijeratne
5. Osteogenesisimperfacta (brittle bones),[object Object],Abnormal fragility of bones,[object Object],Over 90% of Pt have mutations in the COLIA1,COLIA2 genes,[object Object],↓Expression of collagen or structurally abnormal collagen fibrils,[object Object],			↓,[object Object],Weakening of bone,[object Object],			↓,[object Object],Affected infants may be bone with multiple fractures & not survive ,[object Object]
Radiogical appearance of the upper limbs in Osteogenesisimperfacta,[object Object]

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Disorders Of The Bone By Yapa Wijeratne

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